ClinVar Miner

Submissions for variant NM_003242.6(TGFBR2):c.*1815C>T

gnomAD frequency: 0.00421  dbSNP: rs146296952
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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 RCV000328694 SCV000443021 likely benign Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000376462 SCV000443022 likely benign Marfan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000284331 SCV000443023 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.
Breakthrough Genomics, Breakthrough Genomics RCV004710947 SCV005258392 likely benign not provided criteria provided, single submitter not provided

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