ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.6807G>A (p.Ser2269=)

gnomAD frequency: 0.00005  dbSNP: rs752080876
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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) RCV000594954 SCV000709422 uncertain significance not provided 2017-06-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000594954 SCV004283104 likely benign not provided 2024-02-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900357 SCV004712686 likely benign FREM2-related disorder 2021-09-22 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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