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 Lines of evidence used in support of classification: UNCERTAIN: Alteration(s) of Uncertain Clinical Significance Detected
Ambry Genetics RCV000717338 SCV000848188 likely pathogenic History of neurodevelopmental disorder 2016-11-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Strong segregation with disease (lod >3 = >10 meioses),Rarity in general population databases (dbsnp, esp, 1000 genomes),In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Rare (0.1%) in general population databases (dbsnp, esp, 1000 genomes)
OMIM RCV000012510 SCV000032744 pathogenic Mental retardation-hypotonic facies syndrome, X-linked 1999-07-30 no assertion criteria provided literature only

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