ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4368-3205G>A

dbSNP: rs776152870
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664969 SCV000789015 likely benign Usher syndrome type 1F 2016-12-27 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001355937 SCV001550967 uncertain significance not provided no assertion criteria provided clinical testing The PCDH15 c.4384-2G>A variant was identified in 1 individual with. The variant was identified in dbSNP (ID:rs776152870 ) and ClinVar (classified as likely benign by Counsyl). The c.4156-2G>A variant is predicted to cause abnormal splicing because the nucleotide substitution occurs in the invariant region of the splice consensus sequence.

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