ClinVar Miner

Submissions for variant NM_000284.4(PDHA1):c.117+9T>G

gnomAD frequency: 0.00001  dbSNP: rs763924525
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001462330 SCV001666244 likely benign Pyruvate dehydrogenase E1-alpha deficiency 2019-04-12 criteria provided, single submitter clinical testing

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