ClinVar Miner

Submissions for variant NM_000118.3(ENG):c.1533G>A (p.Ala511=) (rs140760635)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226501 SCV000283527 benign Hereditary hemorrhagic telangiectasia 2020-11-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001166480 SCV001328861 likely benign Hereditary hemorrhagic telangiectasia 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.
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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