ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.705G>A (p.Thr235=)

gnomAD frequency: 0.00004  dbSNP: rs755116051
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001475440 SCV001679630 likely benign Hereditary hemorrhagic telangiectasia 2022-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV002368459 SCV002662385 likely benign Cardiovascular phenotype 2022-07-29 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.
CeGaT Center for Human Genetics Tuebingen RCV003426132 SCV004160758 likely benign not provided 2022-03-01 criteria provided, single submitter clinical testing ENG: BP4, BP7

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