ClinVar Miner

Submissions for variant NM_005518.4(HMGCS2):c.1420+13T>C

gnomAD frequency: 0.00006  dbSNP: rs771878586
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000284565 SCV000347902 uncertain significance 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000284565 SCV002385024 likely benign 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 2024-01-02 criteria provided, single submitter clinical testing

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