ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.2680-9C>T

gnomAD frequency: 0.00026  dbSNP: rs369022247
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723611 SCV000230542 uncertain significance not provided 2017-02-15 criteria provided, single submitter clinical testing
GeneDx RCV000723611 SCV000725546 likely benign not provided 2020-08-13 criteria provided, single submitter clinical testing
Invitae RCV000723611 SCV001053966 likely benign not provided 2024-01-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001110028 SCV001267414 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV001110029 SCV001267415 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.

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