ClinVar Miner

Submissions for variant NM_001394062.1(MACF1):c.12480A>G (p.Gln4160=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002943278 SCV003276109 benign not provided 2023-12-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003926583 SCV004745114 likely benign MACF1-related disorder 2019-05-24 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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