ClinVar Miner

Submissions for variant NM_001394062.1(MACF1):c.2851A>G (p.Ser951Gly)

gnomAD frequency: 0.00125  dbSNP: rs139801751
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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 RCV002156741 SCV002324493 benign not provided 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002156741 SCV004127804 benign not provided 2024-03-01 criteria provided, single submitter clinical testing MACF1: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003941285 SCV004755282 likely benign MACF1-related disorder 2021-02-10 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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