ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.1273C>T (p.Arg425Trp)

gnomAD frequency: 0.00004  dbSNP: rs781366271
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000970583 SCV001118172 likely benign Epileptic encephalopathy 2024-01-19 criteria provided, single submitter clinical testing

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