ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1377+45T>C

gnomAD frequency: 0.31560  dbSNP: rs706815
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000254416 SCV000301534 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000999733 SCV000602403 benign Telangiectasia, hereditary hemorrhagic, type 2 2023-11-29 criteria provided, single submitter clinical testing
GeneDx RCV000833921 SCV000975689 benign not provided 2018-06-16 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.
Genome-Nilou Lab RCV000999733 SCV002524606 benign Telangiectasia, hereditary hemorrhagic, type 2 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000833921 SCV005213145 likely benign not provided criteria provided, single submitter not provided

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