ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr)

gnomAD frequency: 0.00012  dbSNP: rs201817670
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc, Center for Human Genetics, Inc RCV000659386 SCV000781197 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001433646 SCV000883634 likely benign not provided 2020-01-16 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001111049 SCV001268551 uncertain significance Stickler syndrome type 1 2017-04-28 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001111050 SCV001268552 benign Type II Collagenopathies 2017-04-28 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae RCV001433646 SCV001636437 likely benign not provided 2023-07-14 criteria provided, single submitter clinical testing
Center of Medical Genetics, Central South University RCV001111049 SCV002576567 likely benign Stickler syndrome type 1 2022-07-01 criteria provided, single submitter research

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