ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.6234G>A (p.Thr2078=)

gnomAD frequency: 0.00006  dbSNP: rs372694509
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001409905 SCV001611940 likely benign Epileptic encephalopathy 2025-01-22 criteria provided, single submitter clinical testing

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