ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5547G>A (p.Thr1849=)

dbSNP: rs767304005
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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 RCV000976405 SCV001124306 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272396 SCV001454380 uncertain significance Usher syndrome type 1F 2020-02-13 no assertion criteria provided clinical testing

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