ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.2981T>A (p.Leu994His)

gnomAD frequency: 0.00002  dbSNP: rs548728030
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002504395 SCV002815329 uncertain significance Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2021-10-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278210 SCV001465206 uncertain significance Usher syndrome type 1F 2020-04-17 no assertion criteria provided clinical testing

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