ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.1959A>G (p.Gly653=)

gnomAD frequency: 0.00001  dbSNP: rs757921320
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001411716 SCV001613781 likely benign Epileptic encephalopathy 2023-11-27 criteria provided, single submitter clinical testing

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