ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5136+121C>T

gnomAD frequency: 0.00003  dbSNP: rs780650417
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001565589 SCV001788962 uncertain significance not provided 2024-04-19 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on splicing; Not located in the triple helical region, where the majority of pathogenic missense variants occur (PMID: 22696272; HGMD); Has not been previously published as pathogenic or benign to our knowledge; Reported using an alternate transcript of the gene; This variant is associated with the following publications: (PMID: 22696272)

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