ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.1077C>T (p.Val359=)

dbSNP: rs202002349
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726818 SCV000703269 uncertain significance not provided 2016-12-07 criteria provided, single submitter clinical testing
GeneDx RCV000726818 SCV000722719 likely benign not provided 2020-08-28 criteria provided, single submitter clinical testing
Invitae RCV000726818 SCV001038775 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962668 SCV004779802 likely benign COL2A1-related condition 2021-11-08 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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