ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5178C>T (p.Thr1726=)

gnomAD frequency: 0.00002  dbSNP: rs760796538
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001396239 SCV001597966 likely benign not provided 2024-03-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277669 SCV001464633 uncertain significance Usher syndrome type 1F 2020-07-20 no assertion criteria provided clinical testing

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