ClinVar Miner

Submissions for variant NM_198834.3(ACACA):c.2082-10_2082-8dup

gnomAD frequency: 0.01218  dbSNP: rs147020148
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000676924 SCV002411613 benign not provided 2024-12-02 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676924 SCV000802741 likely benign not provided 2016-03-15 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003928164 SCV004746473 benign ACACA-related disorder 2019-02-28 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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