ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.877-72T>C

gnomAD frequency: 0.27156  dbSNP: rs2076343
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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 RCV001533675 SCV001750434 benign Deficiency of hydroxymethylglutaryl-CoA lyase 2021-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004714264 SCV005282078 benign not provided criteria provided, single submitter not provided

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