ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1815+5G>A (rs146652498)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000176519 SCV000603141 uncertain significance not specified 2017-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000621031 SCV000738509 likely benign Cardiovascular phenotype 2017-02-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,Subpopulation frequency in support of benign classification
Center for Human Genetics, Inc RCV000659418 SCV000781231 uncertain significance Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
Color RCV000776194 SCV000911323 benign Thoracic aortic aneurysm and aortic dissection 2018-10-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176519 SCV000228188 likely benign not specified 2015-04-24 criteria provided, single submitter clinical testing
GeneDx RCV000176519 SCV000521083 likely benign not specified 2017-11-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000589672 SCV000695356 benign not provided 2017-06-12 criteria provided, single submitter clinical testing Variant summary: The COL3A1 c.1815+5G>A variant involves the alteration of a conserved intronic nucleotide and 4/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 74/121588 control chromosomes at a frequency of 0.0006086, which is approximately 487 times the estimated maximal expected allele frequency of a pathogenic COL3A1 variant (0.0000013), suggesting this variant is likely a benign polymorphism, along with multiple clinical diagnostic laboratories classified this variant as likely benign/likely benign. Taken together, this variant is classified as benign.
Invitae RCV000471153 SCV000554713 benign Ehlers-Danlos syndrome, type 4 2018-01-24 criteria provided, single submitter clinical testing

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