ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.6729C>T (p.Ser2243=)

gnomAD frequency: 0.00009  dbSNP: rs368872163
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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 RCV002081016 SCV002372536 likely benign not provided 2024-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005032157 SCV005662356 uncertain significance Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 2024-05-13 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003893233 SCV004716447 likely benign FAT4-related disorder 2021-12-30 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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