ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.5259G>A (p.Leu1753=)

gnomAD frequency: 0.00207  dbSNP: rs75603975
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531586 SCV000634993 benign Epileptic encephalopathy 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003409788 SCV004144670 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing FASN: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003905372 SCV004725248 likely benign FASN-related condition 2019-02-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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