ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.218C>T (p.Ala73Val) (rs397515486)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224484 SCV000281353 pathogenic not provided 2015-12-23 criteria provided, single submitter clinical testing
Diagnostic Laboratory,Strasbourg University Hospital RCV000224133 SCV000281741 pathogenic Intellectual disability 2014-07-25 criteria provided, single submitter clinical testing present in the affected brother
OMIM RCV000057507 SCV000088619 pathogenic Mental retardation 3, X-linked 2013-09-05 no assertion criteria provided literature only

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