ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.1287G>A (p.Thr429=)

dbSNP: rs141819282
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000922119 SCV001067541 likely benign Glutaric aciduria, type 1 2023-12-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960407 SCV004773640 likely benign GCDH-related condition 2021-07-19 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV000922119 SCV001460073 uncertain significance Glutaric aciduria, type 1 2020-01-17 no assertion criteria provided clinical testing

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