NM_001393500.2(TOMT):c.515_518dup (p.Ser174fs) AND Autosomal recessive nonsyndromic hearing loss 63
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jul 18, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001449954.14
Allele description [Variation Report for NM_001393500.2(TOMT):c.515_518dup (p.Ser174fs)]
NM_001393500.2(TOMT):c.515_518dup (p.Ser174fs)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024