ClinVar Miner

Submissions for variant NM_001191061.2(SLC25A22):c.552C>A (p.Ala184=)

dbSNP: rs368807589
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704719 SCV000714565 likely benign not provided 2019-05-03 criteria provided, single submitter clinical testing
Invitae RCV000690839 SCV000818568 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-24 criteria provided, single submitter clinical testing

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