ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.966C>T (p.Ile322=)

gnomAD frequency: 0.00013  dbSNP: rs200366210
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000637194 SCV000758642 benign Epileptic encephalopathy 2023-12-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003420110 SCV004144680 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing FASN: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003965339 SCV004780052 likely benign FASN-related condition 2019-09-04 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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