ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1290G>T (p.Leu430=)

dbSNP: rs377321205
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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 RCV001287575 SCV001474277 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2020-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001459020 SCV001662853 likely benign Hereditary hemorrhagic telangiectasia 2022-07-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003294187 SCV004005050 likely benign Cardiovascular phenotype 2023-05-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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