ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.439-6G>C

dbSNP: rs369208046
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671120 SCV000796065 uncertain significance Pyruvate dehydrogenase E3 deficiency 2017-11-28 criteria provided, single submitter clinical testing
Invitae RCV000671120 SCV001613958 likely benign Pyruvate dehydrogenase E3 deficiency 2023-10-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV000671120 SCV002080044 likely benign Pyruvate dehydrogenase E3 deficiency 2020-11-06 no assertion criteria provided clinical testing

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