ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.318G>A (p.Leu106=)

gnomAD frequency: 0.00031  dbSNP: rs115601365
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000842123 SCV000984119 likely benign not provided 2018-04-23 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 RCV003617865 SCV001011906 likely benign Hereditary spastic paraplegia 7 2024-04-22 criteria provided, single submitter clinical testing

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