ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5655C>T (p.His1885=)

gnomAD frequency: 0.00001  dbSNP: rs758953502
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001469897 SCV001673986 likely benign not provided 2023-07-25 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578643 SCV001805905 uncertain significance Autosomal recessive nonsyndromic hearing loss 23 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578644 SCV001805906 uncertain significance Usher syndrome type 1F 2021-07-14 criteria provided, single submitter clinical testing

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