ClinVar Miner

Submissions for variant NM_004104.5(FASN):c.555G>A (p.Val185=)

dbSNP: rs556347422
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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 RCV000559685 SCV000635004 likely benign Epileptic encephalopathy 2023-12-21 criteria provided, single submitter clinical testing

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