ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.6G>A (p.Gln2=)

dbSNP: rs559880901
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002154966 SCV002337405 likely benign Pyruvate dehydrogenase E3 deficiency 2023-05-23 criteria provided, single submitter clinical testing

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