ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.279G>A (p.Ala93=)

gnomAD frequency: 0.00017  dbSNP: rs145090868
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199886 SCV000249772 benign not specified 2015-01-06 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.
Invitae RCV002228836 SCV000559963 likely benign Ehlers-Danlos syndrome, classic type, 1 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000585585 SCV000693309 likely benign not provided 2017-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315532 SCV000738571 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-12-26 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.
Genome-Nilou Lab RCV002228836 SCV002554042 benign Ehlers-Danlos syndrome, classic type, 1 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270004 SCV002554044 benign Fibromuscular dysplasia, multifocal 2022-03-15 criteria provided, single submitter clinical testing

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