ClinVar Miner

Submissions for variant NM_004341.5(CAD):c.208T>C (p.Phe70Leu)

dbSNP: rs1674954573
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329221 SCV001520596 uncertain significance Developmental and epileptic encephalopathy, 50 2019-01-15 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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