ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.275+20T>C

gnomAD frequency: 0.00009  dbSNP: rs377180838
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001703491 SCV000514471 likely benign not provided 2018-05-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061498 SCV002369893 benign Progressive myoclonic epilepsy 2024-12-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002502481 SCV002806300 likely benign Action myoclonus-renal failure syndrome 2021-10-07 criteria provided, single submitter clinical testing

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