ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3869C>G (p.Ala1290Gly)

gnomAD frequency: 0.00001  dbSNP: rs199555214
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001583271 SCV001810935 uncertain significance not provided 2019-08-26 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 RCV001583271 SCV003314453 benign not provided 2022-09-08 criteria provided, single submitter clinical testing

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