ClinVar Miner

Submissions for variant NM_005619.5(RTN2):c.51A>G (p.Thr17=)

gnomAD frequency: 0.00852  dbSNP: rs117156117
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000430203 SCV000523689 benign not specified 2016-08-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000475468 SCV000557017 benign Spastic paraplegia 2025-01-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848767 SCV002104943 benign Hereditary spastic paraplegia 2021-11-12 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717585 SCV005310450 benign not provided criteria provided, single submitter not provided
Athena Diagnostics RCV000430203 SCV005621052 benign not specified 2023-12-29 criteria provided, single submitter clinical testing

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