ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.584+10G>A

gnomAD frequency: 0.00004  dbSNP: rs765713791
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196729 SCV000253195 likely benign Gorlin syndrome 2024-02-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002478700 SCV002773936 benign not specified 2021-07-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503778 SCV002796041 likely benign Basal cell carcinoma, susceptibility to, 1; Gorlin syndrome; Holoprosencephaly 7 2021-10-18 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004553080 SCV004737742 likely benign PTCH1-related disorder 2019-09-26 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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