ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.*149A>T

gnomAD frequency: 0.00415  dbSNP: rs143024112
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000360310 SCV000442916 likely benign Loeys-Dietz syndrome 2 2018-05-22 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.
Illumina Laboratory Services, Illumina RCV000260810 SCV000442917 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000316167 SCV000442918 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001576737 SCV001803986 likely benign not provided 2018-06-19 criteria provided, single submitter clinical testing

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