ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.6118G>T (p.Ala2040Ser)

gnomAD frequency: 0.00243  dbSNP: rs150748779
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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 RCV000543343 SCV000635017 benign Epileptic encephalopathy 2024-12-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710116 SCV005254033 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003925627 SCV004737681 likely benign FASN-related disorder 2019-03-19 no assertion criteria provided 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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