ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.437C>T (p.Pro146Leu)

gnomAD frequency: 0.00001  dbSNP: rs543199135
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002027170 SCV002308685 benign not provided 2022-08-31 criteria provided, single submitter clinical testing
GeneDx RCV002027170 SCV002770100 uncertain significance not provided 2022-06-22 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD; Acke et al., 2014); This variant is associated with the following publications: (PMID: 25240749)

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