ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.3327C>T (p.Phe1109=)

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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 RCV002607131 SCV003507024 likely benign not provided 2022-04-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005028272 SCV005657882 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2023-12-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003936604 SCV004747682 likely benign FAT4-related disorder 2019-07-23 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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