ClinVar Miner

Submissions for variant NM_033056.4(PCDH15):c.4409_4413dup (p.Val1472fs)

dbSNP: rs749884609
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672638 SCV000797763 uncertain significance Usher syndrome type 1F 2018-02-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005046899 SCV005680258 likely pathogenic Autosomal recessive nonsyndromic hearing loss 23; Usher syndrome type 1D; Usher syndrome type 1F 2024-06-07 criteria provided, single submitter clinical testing

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