ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.-120G>T

gnomAD frequency: 0.00022  dbSNP: rs565259710
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506467 SCV000603458 likely benign not specified 2016-10-13 criteria provided, single submitter clinical testing
Invitae RCV002056906 SCV002328232 likely benign Hereditary hemorrhagic telangiectasia 2023-05-22 criteria provided, single submitter clinical testing

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