ClinVar Miner

Submissions for variant NM_005245.4(FAT1):c.6361A>G (p.Lys2121Glu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002912971 SCV003249441 benign not provided 2022-04-30 criteria provided, single submitter clinical testing
GeneDx RCV002912971 SCV003921515 uncertain significance not provided 2022-10-31 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004548387 SCV004722068 benign FAT1-related disorder 2019-08-12 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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