ClinVar Miner

Submissions for variant NM_000094.4(COL7A1):c.5261del (p.Pro1754fs)

dbSNP: rs1057517723
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002255737 SCV002526471 pathogenic not provided 2023-06-05 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (gnomAD)

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