ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.2326del (p.Glu776fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV005205722 SCV005848415 uncertain significance not provided 2024-08-08 criteria provided, single submitter clinical testing Frameshift variant predicted to result in abnormal protein length as the last 20 amino acids are replaced with 46 different amino acids; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge

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