ClinVar Miner

Submissions for variant NM_031471.6(FERMT3):c.159C>G (p.Ile53Met)

gnomAD frequency: 0.00225  dbSNP: rs142815441
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175956 SCV000227534 likely benign not specified 2015-06-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000646732 SCV000768516 likely benign Leukocyte adhesion deficiency 3 2024-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703445 SCV005210961 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003907578 SCV004729736 likely benign FERMT3-related disorder 2022-02-17 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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