ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4794G>A (p.Gln1598=)

dbSNP: rs372440971
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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 RCV000981570 SCV001129544 likely benign not provided 2023-09-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272403 SCV001454388 likely benign Usher syndrome type 1F 2020-04-20 no assertion criteria provided clinical testing

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