ClinVar Miner

Submissions for variant NM_207361.6(FREM2):c.111C>T (p.Leu37=)

gnomAD frequency: 0.00001  dbSNP: rs765770038
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000875049 SCV001017318 likely benign not provided 2024-01-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495312 SCV002796147 likely benign Isolated cryptophthalmia; Fraser syndrome 2 2021-11-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948223 SCV004764234 likely benign FREM2-related disorder 2019-10-16 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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