ClinVar Miner

Submissions for variant NM_005984.5(SLC25A1):c.821C>T (p.Ala274Val)

gnomAD frequency: 0.00001  dbSNP: rs483352910
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001781347 SCV002022600 likely pathogenic not provided 2019-09-03 criteria provided, single submitter clinical testing
OMIM RCV001801245 SCV000058661 pathogenic D,L-2-hydroxyglutaric aciduria 2013-04-04 no assertion criteria provided literature only

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