ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1348-4del

dbSNP: rs758567906
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000181050 SCV000317698 likely benign Familial thoracic aortic aneurysm and aortic dissection 2020-07-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina RCV000303185 SCV000425511 uncertain significance Ehlers-Danlos syndrome, type 4 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001668346 SCV001884022 benign not provided 2019-08-30 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV000181050 SCV002041934 benign Familial thoracic aortic aneurysm and aortic dissection 2020-09-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000303185 SCV002336056 benign Ehlers-Danlos syndrome, type 4 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000181050 SCV000233325 benign Familial thoracic aortic aneurysm and aortic dissection 2012-12-26 flagged submission clinical testing The variant is found in TAAD panel(s).

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