ClinVar Miner

Submissions for variant NM_025077.4(TOE1):c.-41A>G

gnomAD frequency: 0.00005  dbSNP: rs1211077933
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000583789 SCV000690566 likely benign Hereditary cancer-predisposing syndrome 2017-04-30 criteria provided, single submitter clinical testing
Invitae RCV000975667 SCV001123555 likely benign Familial adenomatous polyposis 2 2023-08-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952930 SCV004772328 likely benign MUTYH-related condition 2022-04-11 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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