ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.171C>A (p.Gly57=)

gnomAD frequency: 0.00001  dbSNP: rs757128075
Minimum review status: Collection method:
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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 RCV001278341 SCV001645684 likely benign Deficiency of acetyl-CoA acetyltransferase 2023-10-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278341 SCV001465344 uncertain significance Deficiency of acetyl-CoA acetyltransferase 2020-04-11 no assertion criteria provided clinical testing

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