ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.689+17G>A

gnomAD frequency: 0.00005  dbSNP: rs773103359
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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 RCV001802324 SCV002050230 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2021-10-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074157 SCV002365129 benign Hereditary hemorrhagic telangiectasia 2024-01-31 criteria provided, single submitter clinical testing

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