ClinVar Miner

Submissions for variant NM_001931.5(DLAT):c.654C>T (p.His218=)

gnomAD frequency: 0.00001  dbSNP: rs1472423442
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 RCV002544468 SCV001079458 likely benign Pyruvate dehydrogenase E2 deficiency 2022-09-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003389847 SCV004133305 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing DLAT: BP4, BP7

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