ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5137-12C>T

gnomAD frequency: 0.00488  dbSNP: rs191758714
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000124468 SCV000167901 benign not specified 2013-02-28 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 RCV003891657 SCV000302238 benign COL5A1-related disorder 2021-05-21 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Illumina Laboratory Services, Illumina RCV000286500 SCV000478589 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 RCV000659464 SCV000781279 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812021 SCV001158785 benign not provided 2023-10-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002055496 SCV002427972 benign Ehlers-Danlos syndrome, classic type, 1 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002055496 SCV002554678 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002269909 SCV002554679 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001812021 SCV002564083 benign not provided 2024-06-01 criteria provided, single submitter clinical testing COL5A1: BS1, BS2
Fulgent Genetics, Fulgent Genetics RCV002492456 SCV002802169 benign Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 2021-08-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000124468 SCV004029539 benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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