ClinVar Miner

Submissions for variant NM_000264.5(PTCH1):c.3805-9C>T

gnomAD frequency: 0.00072  dbSNP: rs2236404
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000123031 SCV000166326 benign Gorlin syndrome 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000406370 SCV000481262 likely benign Holoprosencephaly 7 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000123031 SCV000481263 likely benign Gorlin syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx RCV001705898 SCV001857915 benign not provided 2021-01-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002477322 SCV002773927 benign not specified 2021-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004551208 SCV004725397 benign PTCH1-related disorder 2022-10-03 no assertion criteria provided 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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