ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.1536A>G (p.Pro512=) (rs148577619)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175892 SCV000227463 benign not specified 2015-01-06 criteria provided, single submitter clinical testing
GeneDx RCV000175892 SCV000512578 benign not specified 2015-08-24 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.
Invitae RCV000525109 SCV000631240 benign CHARGE association 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719580 SCV000850449 benign History of neurodevelopmental disorder 2017-01-31 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance

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