ClinVar Miner

Submissions for variant NM_005612.5(REST):c.2413del (p.Leu805fs)

dbSNP: rs1553904346
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000515908 SCV000579329 likely pathogenic Fibromatosis, gingival, 1 2017-05-01 criteria provided, single submitter research This variant was identified in an individual with hereditary gingival fibromatosis.
OMIM RCV000498949 SCV000590796 pathogenic Fibromatosis, gingival, 5 2017-08-15 no assertion criteria provided literature only

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