ClinVar Miner

Submissions for variant NM_001394062.1(MACF1):c.22506T>G (p.Phe7502Leu)

gnomAD frequency: 0.00290  dbSNP: rs138819868
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000656100 SCV000598599 uncertain significance Abnormal corpus callosum morphology 2017-09-01 criteria provided, single submitter research this variant was indentified in an individual with malformations of cortical development
Labcorp Genetics (formerly Invitae), Labcorp RCV000971197 SCV001118823 likely benign not provided 2023-12-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000971197 SCV004127850 likely benign not provided 2024-05-01 criteria provided, single submitter clinical testing MACF1: BS2
PreventionGenetics, part of Exact Sciences RCV003902806 SCV004725739 benign MACF1-related disorder 2024-07-11 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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