ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=) (rs367982631)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001481593 SCV000722768 likely benign not provided 2019-08-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001112704 SCV001270395 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 Clinical Services Laboratory,Illumina RCV001112705 SCV001270396 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.
Invitae RCV001481593 SCV001685940 likely benign not provided 2019-12-17 criteria provided, single submitter clinical testing
Clinical Genetics,Academic Medical Center RCV001729657 SCV001978788 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001481593 SCV001980610 likely benign not provided no assertion criteria provided clinical testing

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