ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.9337A>G (p.Thr3113Ala)

gnomAD frequency: 0.00014  dbSNP: rs202106776
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000332225 SCV000343629 likely benign not specified 2016-08-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000873270 SCV001015229 benign not provided 2024-12-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003910024 SCV004720090 likely benign FREM2-related disorder 2019-08-01 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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