ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.6G>T (p.Val2=)

gnomAD frequency: 0.00324  dbSNP: rs113626637
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193578 SCV000247804 likely benign not specified 2016-10-14 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000193578 SCV000336193 benign not specified 2015-10-12 criteria provided, single submitter clinical testing
Invitae RCV001086162 SCV001119623 benign L-2-hydroxyglutaric aciduria 2024-01-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001086162 SCV002799828 likely benign L-2-hydroxyglutaric aciduria 2021-08-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000676580 SCV004042588 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing L2HGDH: BP4, BP7, BS2
Mayo Clinic Laboratories, Mayo Clinic RCV000676580 SCV000802367 likely benign not provided 2016-02-26 no assertion criteria provided clinical testing

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