ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.7283T>C (p.Phe2428Ser)

gnomAD frequency: 0.99601  dbSNP: rs6892335
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001681206 SCV001897587 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703051 SCV001933328 benign Spinocerebellar ataxia 45 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001681206 SCV003336590 benign not provided 2025-02-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003984055 SCV004799704 benign FAT2-related disorder 2019-07-08 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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