ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.4629C>G (p.Ser1543=)

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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 RCV005105782 SCV005729806 likely benign Epileptic encephalopathy 2024-11-26 criteria provided, single submitter clinical testing

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