ClinVar Miner

Submissions for variant NM_000020.3(ACVRL1):c.1084C>T (p.Leu362=)

gnomAD frequency: 0.00021  dbSNP: rs375679140
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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 RCV001287838 SCV001474575 likely benign Telangiectasia, hereditary hemorrhagic, type 2 2019-10-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002430073 SCV002730484 likely benign Cardiovascular phenotype 2020-04-27 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001287838 SCV003250841 likely benign Telangiectasia, hereditary hemorrhagic, type 2 2023-11-14 criteria provided, single submitter clinical testing

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