ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.12T>C (p.His4=)

gnomAD frequency: 0.00004  dbSNP: rs368818087
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000428015 SCV000518920 benign not specified 2016-02-22 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 RCV002230015 SCV000559995 likely benign Ehlers-Danlos syndrome, classic type, 1 2025-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313055 SCV000738580 benign Familial thoracic aortic aneurysm and aortic dissection 2017-05-24 criteria provided, single submitter clinical testing This alteration is classified as 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.
Genome-Nilou Lab RCV002230015 SCV002553919 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270258 SCV002553931 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002278674 SCV002565671 likely benign Ehlers-Danlos syndrome 2020-10-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488905 SCV002797284 benign Ehlers-Danlos syndrome, classic type, 1; Fibromuscular dysplasia, multifocal 2022-05-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000428015 SCV004029182 benign not specified 2023-07-21 criteria provided, single submitter clinical testing

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