ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.987+19G>A

gnomAD frequency: 0.00263  dbSNP: rs62071462
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128199 SCV000171791 benign not specified 2014-01-11 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 RCV001518549 SCV001727259 benign Hereditary spastic paraplegia 7 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001518549 SCV002805284 likely benign Hereditary spastic paraplegia 7 2022-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709337 SCV005253211 benign not provided criteria provided, single submitter not provided

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