ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.876-6A>T

gnomAD frequency: 0.00010  dbSNP: rs199944006
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000912663 SCV001057778 likely benign Pyruvate dehydrogenase E3 deficiency 2024-07-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000912663 SCV001464058 likely benign Pyruvate dehydrogenase E3 deficiency 2020-09-16 no assertion criteria provided clinical testing

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