ClinVar Miner

Submissions for variant NM_005619.5(RTN2):c.1476C>G (p.Pro492=)

gnomAD frequency: 0.00004  dbSNP: rs748824542
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000992762 SCV001145286 likely benign not provided 2018-08-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001399634 SCV001601424 likely benign Spastic paraplegia 2023-11-22 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847124 SCV002104936 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing

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