ClinVar Miner

Submissions for variant NM_000925.4(PDHB):c.935-4C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003030021 SCV003331507 likely benign Pyruvate dehydrogenase E1-beta deficiency 2023-04-14 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711930 SCV005264029 likely benign not provided criteria provided, single submitter not provided

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