ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.566G>C (p.Ser189Thr)

dbSNP: rs764774411
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000785884 SCV004199269 uncertain significance Glutaric aciduria, type 1 2022-12-29 criteria provided, single submitter clinical testing
Department of Biotechnology and Microbiology, Karnatak University Dharwad RCV000785884 SCV000924299 likely pathogenic Glutaric aciduria, type 1 2018-09-26 no assertion criteria provided research

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