ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.119-5C>T

gnomAD frequency: 0.00001  dbSNP: rs377653882
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001402918 SCV001604778 likely benign Pyruvate dehydrogenase E3 deficiency 2023-03-26 criteria provided, single submitter clinical testing

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