ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu)

gnomAD frequency: 0.00001  dbSNP: rs371268468
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041428 SCV001205044 likely benign not provided 2023-08-07 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001114066 SCV001271897 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001114067 SCV001271898 uncertain significance 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
GeneDx RCV001041428 SCV001991090 uncertain significance not provided 2019-05-24 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276596 SCV002566358 uncertain significance Connective tissue disorder 2020-04-01 criteria provided, single submitter clinical testing

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