ClinVar Miner

Submissions for variant NM_005619.5(RTN2):c.1068G>A (p.Thr356=)

gnomAD frequency: 0.00006  dbSNP: rs370997046
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
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 RCV001847506 SCV002104930 likely benign Hereditary spastic paraplegia 2020-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002545257 SCV003019242 likely benign Spastic paraplegia 2022-03-29 criteria provided, single submitter clinical testing

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