ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.3541G>C (p.Val1181Leu) (rs61758732)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717266 SCV000848115 benign History of neurodevelopmental disorder 2016-11-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign),Sub-population frequency in support of benign classification (not ava blue, manual h-w)
Athena Diagnostics Inc RCV000120187 SCV000612474 benign not specified 2017-07-13 criteria provided, single submitter clinical testing
GeneDx RCV000120187 SCV000521482 likely benign not specified 2015-12-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ITMI RCV000120187 SCV000084333 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000467336 SCV000561551 benign ATR-X syndrome 2018-01-05 criteria provided, single submitter clinical testing

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