ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.840C>T (p.Asn280=)

gnomAD frequency: 0.00046  dbSNP: rs138467167
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001466669 SCV001670675 likely benign D-2-hydroxyglutaric aciduria 1 2023-11-06 criteria provided, single submitter clinical testing

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