ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.1203C>T (p.Ser401=)

gnomAD frequency: 0.00003  dbSNP: rs759378757
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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 RCV001277543 SCV001664204 likely benign Hereditary spastic paraplegia 49 2023-10-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847225 SCV002105907 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001277543 SCV001464503 benign Hereditary spastic paraplegia 49 2020-04-16 no assertion criteria provided clinical testing

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