ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.3186C>T (p.His1062=)

gnomAD frequency: 0.00266  dbSNP: rs45493497
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536822 SCV000634959 benign Epileptic encephalopathy 2024-01-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905369 SCV004718225 benign FASN-related condition 2019-06-13 criteria provided, single submitter 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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