ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.5463G>A (p.Gly1821=)

gnomAD frequency: 0.00001  dbSNP: rs1296410684
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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 RCV002171016 SCV002429151 likely benign Epileptic encephalopathy 2021-03-12 criteria provided, single submitter clinical testing

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