ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.607+9T>A

gnomAD frequency: 0.00005  dbSNP: rs886051380
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000358147 SCV000393487 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000266797 SCV000393488 uncertain significance Aneurysm-osteoarthritis syndrome 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000660270 SCV000782294 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Invitae RCV000358147 SCV001008249 likely benign Familial thoracic aortic aneurysm and aortic dissection 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001706486 SCV001866592 benign not provided 2016-09-29 criteria provided, single submitter clinical testing

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