ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1323C>T (p.His441=)

gnomAD frequency: 0.00003  dbSNP: rs751203937
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878774 SCV001021738 likely benign Hereditary hemorrhagic telangiectasia 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003307659 SCV004005058 likely benign Cardiovascular phenotype 2023-05-27 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003489955 SCV004241315 likely benign not specified 2023-12-19 criteria provided, single submitter clinical testing

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