ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.3465C>A (p.Ser1155Arg)

gnomAD frequency: 0.00041  dbSNP: rs75004775
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ClinVar version:
Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538688 SCV000652478 benign Hereditary spastic paraplegia 49 2025-01-23 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848969 SCV002105943 benign Hereditary spastic paraplegia 2021-06-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715288 SCV005294611 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000538688 SCV001460240 benign Hereditary spastic paraplegia 49 2020-09-16 no assertion criteria provided clinical testing

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