ClinVar Miner

Submissions for variant NM_152783.5(D2HGDH):c.854-1200C>T

gnomAD frequency: 0.53075  dbSNP: rs35386923
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987079 SCV001136277 benign D-2-hydroxyglutaric aciduria 1 2019-05-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709014 SCV005244911 benign not provided criteria provided, single submitter not provided

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