ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.618+8A>G

gnomAD frequency: 0.00001  dbSNP: rs768740995
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848242 SCV002105892 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002074410 SCV002461230 likely benign Hereditary spastic paraplegia 7 2021-10-05 criteria provided, single submitter clinical testing

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