ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.862-16T>G

gnomAD frequency: 0.00016  dbSNP: rs199954282
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000199800 SCV000252298 benign not specified 2014-08-07 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 RCV002054343 SCV002470708 benign Hereditary spastic paraplegia 7 2023-12-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709384 SCV005253208 benign not provided criteria provided, single submitter not provided

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