ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4367+1G>A

dbSNP: rs1057516613
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410301 SCV000485947 likely pathogenic Usher syndrome type 1F 2016-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505994 SCV002815682 likely pathogenic Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2021-08-10 criteria provided, single submitter clinical testing

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