"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LTF"[ge - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 738852	NM_002343.6(LTF):c.1662G>C (p.Leu554=)	LTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746010	NM_002343.6(LTF):c.1587C>T (p.Asp529=)	LTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721972	NM_002343.6(LTF):c.1444G>T (p.Val482Leu)	LTF (V438L +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785795	NM_002343.6(LTF):c.1351G>A (p.Val451Met)	LTF (V438M +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785796	NM_002343.6(LTF):c.522C>T (p.Ala174=)	LTF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 731672	NM_002343.6(LTF):c.417C>A (p.Arg139=)	LTF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 743969	NM_002343.6(LTF):c.294G>A (p.Ala98=)	LTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785048	NM_002343.6(LTF):c.185T>A (p.Ile62Asn)	LTF (I49N +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 753993	NM_002343.6(LTF):c.93C>T (p.Ser31=)	LTF	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance