ClinVar Miner

Submissions for variant NM_005612.5(REST):c.2770C>T (p.Gln924Ter)

dbSNP: rs1284461687
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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 Munich, Klinikum Rechts Der Isar, TU München RCV000995854 SCV001150235 likely pathogenic Fibromatosis, gingival, 5 2020-01-16 criteria provided, single submitter clinical testing

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