ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.6149T>C (p.Ile2050Thr) (rs122445110)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000190781 SCV000244222 likely pathogenic Inborn genetic diseases 2014-08-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV000717338 SCV000848188 likely pathogenic History of neurodevelopmental disorder 2016-11-03 criteria provided, single submitter clinical testing
OMIM RCV000012510 SCV000032744 pathogenic Mental retardation-hypotonic facies syndrome, X-linked 2005-02-01 no assertion criteria provided literature only

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