ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.1527C>T (p.Pro509=)

gnomAD frequency: 0.90395  dbSNP: rs1465690
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001648080 SCV001858404 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001703143 SCV001933342 benign Spinocerebellar ataxia 45 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001648080 SCV003336604 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980845 SCV004798461 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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