ClinVar Miner

Submissions for variant NM_001394062.1(MACF1):c.3716G>T (p.Arg1239Leu)

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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 RCV002922159 SCV003259177 benign not provided 2025-01-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002922159 SCV004127808 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing MACF1: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003936379 SCV004749071 benign MACF1-related disorder 2020-03-02 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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