ClinVar Miner

Submissions for variant NM_005619.5(RTN2):c.1593C>T (p.Ala531=)

gnomAD frequency: 0.00720  dbSNP: rs148630935
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000368312 SCV000413613 likely benign Spastic paraplegia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000464056 SCV000557015 benign Spastic paraplegia 2024-01-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000517926 SCV000614891 benign not specified 2017-04-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848668 SCV002104938 likely benign Hereditary spastic paraplegia 2021-09-01 criteria provided, single submitter clinical testing

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