ClinVar Miner

Submissions for variant NM_001291303.3(FAT4):c.4154T>C (p.Leu1385Ser)

gnomAD frequency: 0.00597  dbSNP: rs139883132
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000972408 SCV000525534 benign not provided 2018-04-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000972408 SCV001120118 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000972408 SCV002049642 likely benign not provided 2020-11-20 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821182 SCV002071110 benign not specified 2017-08-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000972408 SCV005256150 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003912697 SCV004746478 benign FAT4-related disorder 2021-05-26 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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