ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.612G>T (p.Thr204=)

dbSNP: rs545867472
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001510580 SCV001717651 benign not provided 2024-08-27 criteria provided, single submitter clinical testing
GeneDx RCV001510580 SCV001783257 likely benign not provided 2020-10-31 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001510580 SCV002034722 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001510580 SCV002038270 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004540475 SCV004788253 likely benign COL11A1-related disorder 2020-03-16 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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