ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.1209G>A (p.Lys403=)

gnomAD frequency: 0.00005  dbSNP: rs200729208
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001450835 SCV001654453 likely benign Deficiency of acetyl-CoA acetyltransferase 2024-02-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001450835 SCV002090088 likely benign Deficiency of acetyl-CoA acetyltransferase 2019-12-13 no assertion criteria provided clinical testing

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