ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.774G>A (p.Ser258=)

gnomAD frequency: 0.49039  dbSNP: rs3734060
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001702190 SCV001933343 benign Spinocerebellar ataxia 45 2021-08-10 criteria provided, single submitter clinical testing
GeneDx RCV001713688 SCV001942596 benign not provided 2020-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001713688 SCV003336605 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003976034 SCV004793507 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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