ClinVar Miner

Submissions for variant NM_000393.5(COL5A2):c.2554-14A>G

gnomAD frequency: 0.00703  dbSNP: rs142429770
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124504 SCV000167937 benign not specified 2013-03-05 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.
PreventionGenetics, part of Exact Sciences RCV000124504 SCV000303987 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000366430 SCV000425638 likely benign Ehlers-Danlos syndrome type 7A 2016-06-14 criteria provided, single submitter clinical testing
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659480 SCV000781295 likely benign Ehlers-Danlos syndrome, classic type 2016-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001000279 SCV001156912 benign Ehlers-Danlos syndrome, classic type, 2 2023-11-03 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001000279 SCV001297086 benign Ehlers-Danlos syndrome, classic type, 2 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002055501 SCV002436917 benign Ehlers-Danlos syndrome, classic type, 1 2024-02-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000124504 SCV004038891 benign not specified 2023-08-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710524 SCV005262441 likely benign not provided criteria provided, single submitter not provided

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