ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.317G>C (p.Gly106Ala)

gnomAD frequency: 0.04740  dbSNP: rs117525276
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000444106 SCV000517556 benign not specified 2016-01-29 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 RCV001521137 SCV001730408 benign Hereditary spastic paraplegia 28 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715140 SCV005295539 benign not provided criteria provided, single submitter not provided

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