ClinVar Miner

Submissions for variant NM_001384140.1(PCDH15):c.4367+2T>C

dbSNP: rs1554822703
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674498 SCV000799844 likely pathogenic Usher syndrome type 1F 2018-05-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV003472171 SCV004200783 likely pathogenic Autosomal recessive nonsyndromic hearing loss 23 2023-09-14 flagged submission clinical testing

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