ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.1422C>T (p.His474=)

gnomAD frequency: 0.00004  dbSNP: rs201482100
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253214 SCV000309377 likely benign not specified criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848025 SCV002105840 likely benign Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002518624 SCV003449399 likely benign Hereditary spastic paraplegia 7 2022-07-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528894 SCV001741422 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000253214 SCV001955452 benign not specified no assertion criteria provided clinical testing

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