ClinVar Miner

Submissions for variant NM_001447.3(FAT2):c.3491C>T (p.Pro1164Leu)

gnomAD frequency: 0.44875  dbSNP: rs2304053
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001595365 SCV001828715 benign not provided 2021-05-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001702928 SCV001933332 benign Spinocerebellar ataxia 45 2021-08-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001595365 SCV003336593 benign not provided 2024-01-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980735 SCV004798389 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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