ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.795C>G (p.Gly265=)

dbSNP: rs1488079271
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001563773 SCV001786798 uncertain significance Deficiency of hydroxymethylglutaryl-CoA lyase 2021-07-14 criteria provided, single submitter clinical testing
Invitae RCV001563773 SCV004483310 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2023-02-08 criteria provided, single submitter clinical testing

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