ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.862C>A (p.Pro288Thr)

gnomAD frequency: 0.00001  dbSNP: rs748315186
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001767479 SCV001998323 uncertain significance not provided 2019-11-20 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001767479 SCV002265366 likely benign not provided 2023-12-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002276883 SCV002566794 uncertain significance Connective tissue disorder 2022-01-25 criteria provided, single submitter clinical testing

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