ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.4837G>A (p.Gly1613Ser)

gnomAD frequency: 0.00002  dbSNP: rs772523567
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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 RCV002239270 SCV001198621 benign Ehlers-Danlos syndrome, classic type, 1 2023-11-22 criteria provided, single submitter clinical testing
GeneDx RCV004777928 SCV005389056 uncertain significance not provided 2024-03-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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 does not alter protein structure/function; This variant is associated with the following publications: (PMID: 22696272)

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