ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.33G>T (p.Thr11=)

gnomAD frequency: 0.00001  dbSNP: rs774721226
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243195 SCV000311098 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000638333 SCV000759828 likely benign Progressive myoclonic epilepsy 2023-11-06 criteria provided, single submitter clinical testing
GeneDx RCV001618440 SCV001844587 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500903 SCV002812042 likely benign Action myoclonus-renal failure syndrome 2021-10-20 criteria provided, single submitter clinical testing

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