ClinVar Miner

Submissions for variant NM_000019.4(ACAT1):c.436-8C>T

dbSNP: rs2135355544
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001456688 SCV001660474 likely benign Deficiency of acetyl-CoA acetyltransferase 2020-05-10 criteria provided, single submitter clinical testing

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