ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.1992+13A>G

gnomAD frequency: 0.00001  dbSNP: rs1241199136
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604299 SCV000716647 likely benign not specified 2017-03-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV003538398 SCV004323029 likely benign Hereditary spastic paraplegia 28 2023-03-21 criteria provided, single submitter clinical testing

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