ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu)

dbSNP: rs900216804
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001258198 SCV001405882 benign Ehlers-Danlos syndrome, classic type, 1 2023-10-26 criteria provided, single submitter clinical testing
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV001258198 SCV001435093 uncertain significance Ehlers-Danlos syndrome, classic type, 1 criteria provided, single submitter clinical testing
GeneDx RCV003442797 SCV004170812 uncertain significance not provided 2023-05-02 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Not located in the triple helical region, where the majority of pathogenic missense variants occur (Symoens et al., 2012; HGMD); This variant is associated with the following publications: (PMID: 22696272)

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