ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.4095G>A (p.Pro1365=)

gnomAD frequency: 0.00003  dbSNP: rs375265533
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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 RCV001402353 SCV001604198 likely benign Epileptic encephalopathy 2025-01-11 criteria provided, single submitter clinical testing

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