ClinVar Miner

Submissions for variant NM_014946.4(SPAST):c.415+12G>A

gnomAD frequency: 0.00115  dbSNP: rs539075273
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000610166 SCV000715397 likely benign not specified 2017-02-20 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 RCV002062882 SCV002325869 benign Hereditary spastic paraplegia 4 2025-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002062882 SCV002794890 likely benign Hereditary spastic paraplegia 4 2021-08-06 criteria provided, single submitter clinical testing

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