ClinVar Miner

Submissions for variant NM_005518.4(HMGCS2):c.1333C>T (p.Leu445=)

dbSNP: rs754122611
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001443136 SCV001646103 likely benign 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2022-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711630 SCV005261563 likely benign not provided criteria provided, single submitter not provided

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