ClinVar Miner

Submissions for variant NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=)

gnomAD frequency: 0.00001  dbSNP: rs201223454
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000729977 SCV000715886 likely benign not provided 2020-07-13 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000729977 SCV000857680 uncertain significance not provided 2017-11-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000729977 SCV001474296 likely benign not provided 2020-06-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000729977 SCV002361485 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004543416 SCV004785149 likely benign COL2A1-related disorder 2019-10-16 no assertion criteria provided 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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