ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.625+110_625+130del

dbSNP: rs67833112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002286 SCV001160169 benign Telangiectasia, hereditary hemorrhagic, type 2 2020-04-03 criteria provided, single submitter clinical testing
GeneDx RCV001653866 SCV001869740 benign not provided 2019-05-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001002286 SCV002524589 benign Telangiectasia, hereditary hemorrhagic, type 2 2021-12-05 criteria provided, single submitter clinical testing

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