ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5414C>G (p.Pro1805Arg)

dbSNP: rs377563294
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001546448 SCV001765968 uncertain significance not provided 2024-06-10 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); Not located in the triple helical region, where the majority of pathogenic missense variants occur (PMID: 22696272; HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22696272)
Labcorp Genetics (formerly Invitae), Labcorp RCV002032561 SCV002290726 benign Ehlers-Danlos syndrome, classic type, 1 2024-02-05 criteria provided, single submitter clinical testing

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