ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.583-14A>T

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003522446 SCV004278585 likely benign Ehlers-Danlos syndrome, type 4 2023-02-08 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV003529194 SCV004361441 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2023-03-15 criteria provided, single submitter clinical testing This variant causes an A to T nucleotide substitution at the -14 position of intron 6 of the COL3A1 gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with COL3A1-related disorders in the literature. This variant has been identified in 2/246872 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV003522446 SCV004816690 likely benign Ehlers-Danlos syndrome, type 4 2024-07-20 criteria provided, single submitter clinical testing

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