ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.*60A>G

gnomAD frequency: 0.71373  dbSNP: rs2403058
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001538036 SCV001755032 benign Hereditary spastic paraplegia 49 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001712986 SCV001940942 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001712986 SCV005294617 benign not provided criteria provided, single submitter not provided

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