ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5717dup (p.Asn1906fs)

dbSNP: rs778380770
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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 RCV001301125 SCV001490287 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830178 SCV002080654 uncertain significance Usher syndrome type 1F 2020-03-10 no assertion criteria provided clinical testing

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