NM_194248.3(OTOF):c.1713G>A (p.Leu571=) AND not provided
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Dec 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001852846.8
Allele description [Variation Report for NM_194248.3(OTOF):c.1713G>A (p.Leu571=)]
NM_194248.3(OTOF):c.1713G>A (p.Leu571=)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Sep 29, 2024