ClinVar Miner

Submissions for variant NM_005378.6(MYCN):c.77C>T (p.Pro26Leu)

gnomAD frequency: 0.00001  dbSNP: rs1662700407
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226846 SCV002505731 likely pathogenic Feingold syndrome type 1 2021-08-01 criteria provided, single submitter clinical testing

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