ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.5037C>T (p.Gly1679=)

gnomAD frequency: 0.00006  dbSNP: rs45616934
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001047066 SCV001211000 likely benign Epileptic encephalopathy 2024-09-30 criteria provided, single submitter clinical testing

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