ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.940G>A (p.Ala314Thr)

gnomAD frequency: 0.00087  dbSNP: rs199604315
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000945743 SCV001091794 likely benign Epileptic encephalopathy 2023-11-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003457893 SCV004185094 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing FASN: BP4

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