ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.12085G>A (p.Ala4029Thr)

gnomAD frequency: 0.00009  dbSNP: rs140544054
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001333188 SCV001525703 uncertain significance Hennekam lymphangiectasia-lymphedema syndrome 2 2018-03-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002070173 SCV002486502 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003953671 SCV004778465 likely benign FAT4-related disorder 2022-07-20 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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