ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.2560+7C>T

gnomAD frequency: 0.00016  dbSNP: rs75576651
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000123013 SCV000166308 benign Gorlin syndrome 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000599911 SCV000731075 likely benign not specified 2017-12-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Sema4, Sema4 RCV002257451 SCV002526857 likely benign Hereditary cancer-predisposing syndrome 2021-07-08 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV004551204 SCV004722033 benign PTCH1-related disorder 2019-09-10 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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