NM_015295.3(SMCHD1):c.3049-2A>G AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 9, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001785001.4
Allele description [Variation Report for NM_015295.3(SMCHD1):c.3049-2A>G]
NM_015295.3(SMCHD1):c.3049-2A>G
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Mar 16, 2024