ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.5924T>C (p.Ile1975Thr)

gnomAD frequency: 0.00001  dbSNP: rs200276252
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002079439 SCV002425095 benign not provided 2024-01-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003951166 SCV004773752 likely benign FAT4-related disorder 2020-01-29 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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