ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.2521+10del

gnomAD frequency: 0.15775  dbSNP: rs78491021
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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 RCV001661376 SCV001876588 benign Hereditary spastic paraplegia 28 2021-07-30 criteria provided, single submitter clinical testing
GeneDx RCV001713674 SCV001944297 benign not provided 2018-06-26 criteria provided, single submitter clinical testing

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