ClinVar Miner

Submissions for variant NM_003738.5(PTCH2):c.1296_1300del (p.Val433fs)

gnomAD frequency: 0.00001  dbSNP: rs781171287
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986296 SCV001135242 uncertain significance Gorlin syndrome 2019-05-28 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000986296 SCV004027687 pathogenic Gorlin syndrome 2023-07-05 criteria provided, single submitter clinical testing See ClinVar ID: 651390. Criteria applied: PVS1,PM2_SUP,PP4
Institute of Human Genetics, University of Leipzig Medical Center RCV003992430 SCV004812099 pathogenic Basal cell carcinoma, susceptibility to, 1 2024-03-06 criteria provided, single submitter clinical testing Criteria applied: PVS1,PM2_SUP,PP4

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