ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=)

dbSNP: rs111033445
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665949 SCV000790164 uncertain significance Usher syndrome type 1F 2017-03-14 criteria provided, single submitter clinical testing
Invitae RCV001039646 SCV001203183 likely benign not provided 2022-08-23 criteria provided, single submitter clinical testing
Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals RCV000225513 SCV000282630 uncertain significance Retinal dystrophy no assertion criteria provided clinical testing
Natera, Inc. RCV000665949 SCV002082769 uncertain significance Usher syndrome type 1F 2021-05-06 no assertion criteria provided clinical testing

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