NM_001384140.1(PCDH15):c.2718_2719insGG (p.Pro907fs) AND Autosomal recessive nonsyndromic hearing loss 23
- Germline classification:
- no classifications from unflagged records (1 submission)
- Last evaluated:
- Apr 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003476681.2
Allele description [Variation Report for NM_001384140.1(PCDH15):c.2718_2719insGG (p.Pro907fs)]
NM_001384140.1(PCDH15):c.2718_2719insGG (p.Pro907fs)
Condition(s)
Assertion and evidence details
Flagged submissions
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV004200812 | Baylor Genetics | flagged submission Reason: Other Notes: Flagging candidate with reason of insufficient supporting evidence. This gene has been classified as having a limited gene-disease relationship by a ClinGen Expert Panel. (ACMG Guidelines, 2015) | Likely pathogenic (Jun 27, 2023) | unknown | clinical testing |
Last Updated: Jul 23, 2024