ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.384A>G (p.Ser128=)

gnomAD frequency: 0.00004  dbSNP: rs374439037
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 RCV000982276 SCV001130290 likely benign Deficiency of acetyl-CoA acetyltransferase 2024-01-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000982276 SCV001456955 likely benign Deficiency of acetyl-CoA acetyltransferase 2020-04-11 no assertion criteria provided clinical testing

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