ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.375C>T (p.Val125=)

gnomAD frequency: 0.00009  dbSNP: rs139102957
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000937693 SCV001083483 benign Deficiency of hydroxymethylglutaryl-CoA lyase 2024-01-09 criteria provided, single submitter clinical testing
GeneDx RCV001576568 SCV001803782 likely benign not provided 2020-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000937693 SCV004172294 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2023-04-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273183 SCV001455891 uncertain significance Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2020-02-13 no assertion criteria provided clinical testing

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