ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.1167G>A (p.Leu389=)

dbSNP: rs398123191
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723510 SCV000110087 uncertain significance not provided 2013-05-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000244306 SCV000302754 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV001283826 SCV001648524 likely benign Glutaric aciduria, type 1 2023-08-18 criteria provided, single submitter clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV001283826 SCV001469240 uncertain significance Glutaric aciduria, type 1 2020-10-11 no assertion criteria provided clinical testing

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