ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.2934-236A>G

gnomAD frequency: 0.74118  dbSNP: rs1190552
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001538034 SCV001755030 benign Hereditary spastic paraplegia 49 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001655832 SCV001869419 benign not provided 2018-06-26 criteria provided, single submitter clinical testing

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