ClinVar Miner

Submissions for variant NM_001114753.3(ENG):c.1533G>A (p.Ala511=)

gnomAD frequency: 0.00027  dbSNP: rs140760635
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000226501 SCV000283527 benign Hereditary hemorrhagic telangiectasia 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001166480 SCV001328861 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2017-05-17 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Ambry Genetics RCV002399806 SCV002706926 likely benign Cardiovascular phenotype 2022-02-14 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.
Fulgent Genetics, Fulgent Genetics RCV001166480 SCV002796662 likely benign Telangiectasia, hereditary hemorrhagic, type 1 2021-09-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001166480 SCV004563058 benign Telangiectasia, hereditary hemorrhagic, type 1 2023-11-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579527 SCV001807564 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001579527 SCV001920152 likely benign not provided no assertion criteria provided clinical testing

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