ClinVar Miner

Submissions for variant NM_001379081.2(FREM1):c.541C>T (p.Arg181Trp)

gnomAD frequency: 0.00052  dbSNP: rs200482899
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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) RCV000179012 SCV000231201 uncertain significance not provided 2015-03-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000179012 SCV004452410 likely benign not provided 2023-10-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003977470 SCV004789585 likely benign FREM1-related disorder 2022-02-25 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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