ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.228C>G (p.Leu76=)

dbSNP: rs35069772
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599729 SCV000732212 likely benign not specified 2017-03-03 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 RCV000866213 SCV001007277 likely benign Progressive myoclonic epilepsy 2023-11-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965296 SCV004780398 likely benign SCARB2-related condition 2022-03-14 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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