ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.2818G>A (p.Gly940Ser)

gnomAD frequency: 0.00001  dbSNP: rs1131691874
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000494429 SCV000583041 likely pathogenic not provided 2023-01-06 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 has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 22696272)
Labcorp Genetics (formerly Invitae), Labcorp RCV002231630 SCV000813461 likely benign Ehlers-Danlos syndrome, classic type, 1 2023-09-01 criteria provided, single submitter clinical testing
AiLife Diagnostics, AiLife Diagnostics RCV000494429 SCV002502552 uncertain significance not provided 2021-11-02 criteria provided, single submitter clinical testing

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