ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5272CCT[1] (p.Pro1759_Pro1760del)

dbSNP: rs754779351
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666538 SCV000790844 uncertain significance Usher syndrome type 1F 2017-04-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001868214 SCV002173191 likely benign not provided 2024-12-10 criteria provided, single submitter clinical testing

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