ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1936+13G>A

gnomAD frequency: 0.00061  dbSNP: rs147242721
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614175 SCV000730079 likely benign not specified 2017-11-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV002066746 SCV002343086 likely benign Hereditary spastic paraplegia 7 2024-01-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000614175 SCV004241621 likely benign not specified 2023-12-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905652 SCV004722752 likely benign SPG7-related disorder 2022-06-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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