ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.198C>T (p.Asp66=)

gnomAD frequency: 0.00005  dbSNP: rs751534794
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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 RCV001414424 SCV001616561 likely benign D-2-hydroxyglutaric aciduria 1 2023-08-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711606 SCV005261982 likely benign not provided criteria provided, single submitter not provided

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