ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.1089T>C (p.His363=)

gnomAD frequency: 0.00004  dbSNP: rs753197792
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439756 SCV000532057 likely benign not specified 2017-04-11 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 RCV000866319 SCV001007397 likely benign Progressive myoclonic epilepsy 2023-09-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506068 SCV002806704 likely benign Action myoclonus-renal failure syndrome 2021-11-24 criteria provided, single submitter clinical testing

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