ClinVar Miner

Submissions for variant NM_020435.4(GJC2):c.*157G>A

gnomAD frequency: 0.05934  dbSNP: rs45491398
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001667996 SCV001891092 benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847317 SCV002104724 uncertain significance Hereditary spastic paraplegia 2017-01-11 criteria provided, single submitter clinical testing

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