ClinVar Miner

Submissions for variant NM_000191.3(HMGCL):c.561+20C>T

gnomAD frequency: 0.00001  dbSNP: rs781059597
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001890183 SCV002144008 likely benign Deficiency of hydroxymethylglutaryl-CoA lyase 2024-01-31 criteria provided, single submitter clinical testing

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