ClinVar Miner

Submissions for variant NM_005506.4(SCARB2):c.9A>G (p.Arg3=)

gnomAD frequency: 0.00004  dbSNP: rs148558907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000612482 SCV000716033 likely benign not provided 2020-06-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000798909 SCV000938552 likely benign Progressive myoclonic epilepsy 2024-12-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV005000376 SCV005622506 likely benign not specified 2024-10-07 criteria provided, single submitter clinical testing

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