ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.1022dup (p.Ser342fs)

dbSNP: rs2135889249
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV002255786 SCV002526729 likely pathogenic Gorlin syndrome 2022-05-31 criteria provided, single submitter clinical testing _x000D_ Criteria applied: PVS1, PM2_SUP

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