ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.3012G>A (p.Leu1004=)

dbSNP: rs2088092428
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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 RCV001404842 SCV001606751 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278209 SCV001465205 uncertain significance Usher syndrome type 1F 2020-04-17 no assertion criteria provided clinical testing

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