ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1287T>C (p.Gly429=) (rs35012272)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248974 SCV000308066 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000248974 SCV000525171 likely benign not specified 2017-03-13 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.
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000680497 SCV000807878 likely benign Connective tissue disease 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000893948 SCV001037912 likely benign not provided 2020-11-20 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000893948 SCV001143204 likely benign not provided 2019-08-05 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001110201 SCV001267605 benign Stickler syndrome type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV001110202 SCV001267606 likely benign Type II Collagenopathies 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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