ClinVar Miner

Submissions for variant NM_000093.5(COL5A1):c.5136+105G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003443411 SCV004168371 uncertain significance not provided 2023-10-31 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); Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; Reported using an alternate transcript of the gene

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