ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.961-3del

dbSNP: rs542134887
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000324094 SCV000339135 likely benign not specified 2016-02-05 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000274975 SCV000425659 likely benign Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000324094 SCV000565691 likely benign not specified 2016-09-27 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002229748 SCV000631615 benign Ehlers-Danlos syndrome, classic type, 1 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278296 SCV002565853 likely benign Ehlers-Danlos syndrome 2019-12-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002379133 SCV002694829 likely benign Familial thoracic aortic aneurysm and aortic dissection 2021-08-18 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003758746 SCV004564020 likely benign Ehlers-Danlos syndrome, classic type, 2 2023-02-15 criteria provided, single submitter clinical testing

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