ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.48G>A (p.Ser16=)

gnomAD frequency: 0.00009  dbSNP: rs766051789
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001510823 SCV001717961 benign Epileptic encephalopathy 2023-12-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003942992 SCV004763842 likely benign FASN-related condition 2020-11-25 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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