ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.528T>C (p.Tyr176=)

dbSNP: rs112508527
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000872904 SCV001014795 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2023-12-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908289 SCV004731642 likely benign HMGCL-related disorder 2019-04-12 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. RCV000872904 SCV001467215 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2020-08-25 no assertion criteria provided clinical testing

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