ClinVar Miner

Submissions for variant NM_002303.6(LEPR):c.1785T>G (p.Ser595=)

gnomAD frequency: 0.00001  dbSNP: rs1403870461
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503112 SCV000595572 likely benign not specified 2017-03-21 criteria provided, single submitter clinical testing

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