ClinVar Miner

Submissions for variant NM_024884.3(L2HGDH):c.159C>T (p.Ile53=)

gnomAD frequency: 0.57826  dbSNP: rs2297995
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146249 SCV000193496 likely benign not specified 2013-10-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000676577 SCV000842592 benign not provided 2017-04-20 criteria provided, single submitter clinical testing
Invitae RCV001516292 SCV001724555 benign L-2-hydroxyglutaric aciduria 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001516292 SCV001981203 benign L-2-hydroxyglutaric aciduria 2021-08-19 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676577 SCV000802364 benign not provided 2016-02-19 no assertion criteria provided clinical testing

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