ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1780-16_1780-14del

dbSNP: rs863224213
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196325 SCV000252305 benign not specified 2014-11-18 criteria provided, single submitter clinical testing The variant is found in MITONUC-MITOP panel(s).
Illumina Laboratory Services, Illumina RCV000287344 SCV000399760 uncertain significance Spastic Paraplegia, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054345 SCV002402775 benign Hereditary spastic paraplegia 7 2024-01-19 criteria provided, single submitter clinical testing

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