ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.2528G>T (p.Arg843Leu)

gnomAD frequency: 0.00003  dbSNP: rs765981384
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848253 SCV002105930 uncertain significance Hereditary spastic paraplegia 2017-01-31 criteria provided, single submitter clinical testing

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