ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.524-13C>T

gnomAD frequency: 0.00003  dbSNP: rs756926952
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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 RCV001289848 SCV001477846 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2019-09-25 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001863156 SCV002226543 likely benign Hereditary hemorrhagic telangiectasia 2023-06-09 criteria provided, single submitter clinical testing

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