ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.4116G>T (p.Pro1372=)

dbSNP: rs777406369
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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 RCV000864097 SCV001004855 likely benign Hereditary spastic paraplegia 49 2024-03-17 criteria provided, single submitter clinical testing
GeneDx RCV001840757 SCV002099674 likely benign not provided 2021-03-02 criteria provided, single submitter clinical testing
Natera, Inc. RCV000864097 SCV001454406 likely benign Hereditary spastic paraplegia 49 2020-04-17 no assertion criteria provided clinical testing

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