ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.875G>A (p.Trp292Ter)

dbSNP: rs2147179499
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pediatric Genetics Clinic, Sheba Medical Center RCV001788508 SCV001712164 pathogenic Intellectual disability, X-linked 49 2021-05-13 no assertion criteria provided clinical testing

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