ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.524-15C>T

gnomAD frequency: 0.00114  dbSNP: rs201463582
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000291482 SCV000477347 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000444275 SCV000512935 benign not specified 2016-08-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000291482 SCV001156615 benign Telangiectasia, hereditary hemorrhagic, type 1 2023-09-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002061316 SCV002474363 benign Hereditary hemorrhagic telangiectasia 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705480 SCV005227525 likely benign not provided criteria provided, single submitter not provided

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