ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1552+16G>T

gnomAD frequency: 0.00003  dbSNP: rs746083152
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000608139 SCV000730078 likely benign not specified 2017-07-12 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 RCV002528742 SCV003450843 likely benign Hereditary spastic paraplegia 7 2022-01-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000608139 SCV004813961 likely benign not specified 2024-02-21 criteria provided, single submitter clinical testing

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