ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn)

gnomAD frequency: 0.00009  dbSNP: rs773017713
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535628 SCV000636466 likely benign Progressive myoclonic epilepsy 2023-06-29 criteria provided, single submitter clinical testing
GeneDx RCV001591223 SCV001816243 uncertain significance not provided 2019-03-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Revvity Omics, Revvity Omics RCV003139761 SCV003820678 uncertain significance Action myoclonus-renal failure syndrome 2020-03-12 criteria provided, single submitter clinical testing

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