ClinVar Miner

Submissions for variant NM_005378.6(MYCN):c.727C>T (p.Gln243Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV003387697 SCV004099260 likely pathogenic Feingold syndrome type 1 2023-07-28 criteria provided, single submitter clinical testing PVS1, PM2

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