ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4231_4234dup (p.Thr1412fs)

dbSNP: rs1554822897
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674755 SCV000800146 likely pathogenic Usher syndrome type 1F 2018-05-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV004568569 SCV005055110 likely pathogenic Autosomal recessive nonsyndromic hearing loss 23 2024-03-04 criteria provided, single submitter clinical testing

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