ClinVar Miner

Submissions for variant NM_001379081.2(FREM1):c.5316G>T (p.Ser1772=)

dbSNP: rs775863172
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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 RCV000900672 SCV001045002 likely benign not provided 2023-06-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487966 SCV002802294 likely benign Oculotrichoanal syndrome; BNAR syndrome; Trigonocephaly 2 2021-08-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975729 SCV004793539 likely benign FREM1-related disorder 2019-05-01 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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