ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.412C>T (p.Arg138Cys)

gnomAD frequency: 0.00001  dbSNP: rs139535966
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000567855 SCV000674538 likely benign Hereditary cancer-predisposing syndrome 2023-03-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV000697497 SCV000826112 likely benign Gorlin syndrome 2024-01-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764851 SCV000896007 uncertain significance Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV002464261 SCV002759122 uncertain significance not provided 2022-06-02 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University RCV003153746 SCV003843564 likely pathogenic Ovarian cancer 2022-01-01 criteria provided, single submitter clinical testing

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