ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.6392G>A (p.Arg2131Gln) (rs122445101)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012497 SCV000032731 pathogenic Mental retardation-hypotonic facies syndrome, X-linked 1996-04-01 no assertion criteria provided literature only
UCLA Clinical Genomics Center, UCLA RCV000199096 SCV000255329 pathogenic ATR-X syndrome; Mental retardation-hypotonic facies syndrome X-linked, 1 2014-07-29 criteria provided, single submitter clinical testing

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