ClinVar Miner

Submissions for variant NM_016169.4(SUFU):c.37_42del (p.Thr13_Ala14del)

dbSNP: rs1589969829
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988445 SCV001138163 uncertain significance Gorlin syndrome 2019-05-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004693425 SCV005191011 uncertain significance not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005392621 SCV006054648 uncertain significance Medulloblastoma; Familial meningioma; Joubert syndrome 32; Basal cell nevus syndrome 2 2024-09-18 criteria provided, single submitter clinical testing

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