ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.3693C>T (p.Ala1231=)

gnomAD frequency: 0.00004  dbSNP: rs139409322
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001484728 SCV001689151 likely benign Epileptic encephalopathy 2024-10-29 criteria provided, single submitter clinical testing

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