ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.2631T>C (p.Val877=)

gnomAD frequency: 0.49054  dbSNP: rs3734057
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001666685 SCV001884514 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702226 SCV001933336 benign Spinocerebellar ataxia 45 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001666685 SCV003336599 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003975868 SCV004798346 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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