ClinVar Miner

Submissions for variant NM_000454.5(SOD1):c.357_357+2del

dbSNP: rs2123435651
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hadassah Hebrew University Medical Center RCV001553779 SCV001774778 likely pathogenic Spastic tetraplegia and axial hypotonia, progressive 2019-06-20 criteria provided, single submitter clinical testing
OMIM RCV001553779 SCV002568000 pathogenic Spastic tetraplegia and axial hypotonia, progressive 2022-08-25 no assertion criteria provided literature only

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