ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.556C>T (p.Leu186=)

dbSNP: rs2139702903
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001499541 SCV001704305 likely benign Hereditary spastic paraplegia 49 2020-03-08 criteria provided, single submitter clinical testing

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