ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.4194G>A (p.Met1398Ile)

dbSNP: rs757191728
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847228 SCV002105966 uncertain significance Hereditary spastic paraplegia 2017-06-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV001279683 SCV001466799 likely benign Hereditary spastic paraplegia 49 2020-09-02 no assertion criteria provided clinical testing

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