ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.475A>G (p.Met159Val) (rs143655258)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188788 SCV000242412 benign not specified 2014-06-18 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 RCV000230684 SCV000288918 benign Progressive myoclonic epilepsy 2018-01-01 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000188788 SCV000311100 benign not specified criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000713065 SCV000843632 benign not provided 2018-07-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715893 SCV000846725 benign Seizures 2017-05-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000604780 SCV000734337 benign Epilepsy, progressive myoclonic 4, with or without renal failure no assertion criteria provided clinical testing

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