ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.3474G>T (p.Ser1158=)

dbSNP: rs376646346
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000861611 SCV001001979 benign Hereditary spastic paraplegia 49 2024-10-30 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849146 SCV002105945 likely benign Hereditary spastic paraplegia 2019-03-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000861611 SCV001454397 uncertain significance Hereditary spastic paraplegia 49 2020-01-24 no assertion criteria provided clinical testing

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