ClinVar Miner

Submissions for variant NM_005670.4(EPM2A):c.825G>A (p.Ala275=)

gnomAD frequency: 0.00002  dbSNP: rs762115387
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540187 SCV000636481 likely benign Progressive myoclonic epilepsy 2023-11-07 criteria provided, single submitter clinical testing
GeneDx RCV001675917 SCV001893320 benign not provided 2015-07-06 criteria provided, single submitter clinical testing

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