ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.674G>A (p.Ser225Asn) (rs318240758)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000032897 SCV000056668 pathogenic Mental retardation 3, X-linked 2012-10-05 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059786 SCV000091356 not provided not provided no assertion provided not provided

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