ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.4674C>T (p.Cys1558=)

gnomAD frequency: 0.00001  dbSNP: rs377345725
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001412693 SCV001614789 likely benign Epileptic encephalopathy 2022-06-13 criteria provided, single submitter clinical testing

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