ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.624G>A (p.Val208=)

gnomAD frequency: 0.00001  dbSNP: rs747724373
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803940 SCV000943828 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2023-10-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000803940 SCV001455886 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2020-05-01 no assertion criteria provided clinical testing

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