ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.6318G>A (p.Leu2106=)

gnomAD frequency: 0.00035  dbSNP: rs146934927
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559838 SCV000635024 likely benign Epileptic encephalopathy 2023-12-13 criteria provided, single submitter clinical testing

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