ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.5688C>T (p.Phe1896=)

gnomAD frequency: 0.00001  dbSNP: rs369431791
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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 RCV001438118 SCV001640986 likely benign Epileptic encephalopathy 2019-12-30 criteria provided, single submitter clinical testing

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