ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.568C>G (p.Pro190Ala) (rs122445103)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000012500 SCV000032734 pathogenic ATR-X syndrome 1997-10-01 no assertion criteria provided literature only
UCLA Clinical Genomics Center, UCLA RCV000197579 SCV000255328 likely pathogenic ATR-X syndrome; Mental retardation-hypotonic facies syndrome X-linked, 1 2013-05-21 criteria provided, single submitter clinical testing

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