ClinVar Miner

Submissions for variant NM_000108.5(DLD):c.1266A>G (p.Pro422=)

gnomAD frequency: 0.00001  dbSNP: rs766756785
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 RCV001277155 SCV001642411 likely benign Pyruvate dehydrogenase E3 deficiency 2024-03-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277155 SCV001463997 uncertain significance Pyruvate dehydrogenase E3 deficiency 2020-03-11 no assertion criteria provided clinical testing

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