ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.113G>A (p.Gly38Glu) (rs143494325)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200738 SCV000254451 likely benign Gorlin syndrome 2020-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000492756 SCV000581016 benign Hereditary cancer-predisposing syndrome 2019-10-16 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign);Other data supporting benign classification
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital RCV000761034 SCV000890949 uncertain significance Craniopharyngioma 2016-10-31 criteria provided, single submitter clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001723770 SCV001959458 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001723770 SCV001974212 likely benign not provided no assertion criteria provided clinical testing

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