ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.818G>A (p.Arg273His)

dbSNP: rs770339981
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996404 SCV001151091 uncertain significance not provided 2018-06-01 criteria provided, single submitter clinical testing
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris RCV001644887 SCV001519314 uncertain significance Spastic ataxia 2021-01-04 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV005056731 SCV005718904 likely benign Hereditary spastic paraplegia 7 2024-09-11 criteria provided, single submitter clinical testing

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