ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.9113T>C (p.Val3038Ala)

gnomAD frequency: 0.00204  dbSNP: rs114688149
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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) RCV000731495 SCV000859323 uncertain significance not provided 2018-01-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000731495 SCV001014723 likely benign not provided 2024-11-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816801 SCV002067090 likely benign not specified 2018-08-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928234 SCV004742398 likely benign FREM2-related disorder 2019-11-08 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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