NM_000260.4(MYO7A):c.510G>A (p.Leu170=) AND Usher syndrome type 1B
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Dec 6, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001831639.1
Allele description [Variation Report for NM_000260.4(MYO7A):c.510G>A (p.Leu170=)]
NM_000260.4(MYO7A):c.510G>A (p.Leu170=)
Condition(s)
- Name:
- Usher syndrome type 1B (USH1B)
- Synonyms:
- Usher syndrome type IB
- Identifiers:
- MONDO: MONDO:0700087; MedGen: C2931206
Assertion and evidence details
Last Updated: Nov 24, 2024