ClinVar Miner

Submissions for variant NM_005518.4(HMGCS2):c.891C>T (p.Tyr297=)

gnomAD frequency: 0.00002  dbSNP: rs1048438
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001531011 SCV001745944 likely benign not provided 2021-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003621595 SCV004520226 likely benign 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2023-06-24 criteria provided, single submitter clinical testing

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