"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1642174	NM_001353214.3(DYM):c.1912-15C>T	DYM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 992365	NM_001353214.3(DYM):c.1762C>T (p.Arg588Ter)	DYM (R342* +11 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 283838	NM_001353214.3(DYM):c.1717C>T (p.Leu573=)	DYM	Single nucleotide variant (synonymous variant)	Smith-McCort dysplasia +3 more	GConflicting classifications of pathogenicity

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