ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.448G>T (p.Gly150Cys)

gnomAD frequency: 0.01877  dbSNP: rs73296180
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426710 SCV000520723 benign not specified 2016-02-17 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 RCV000459121 SCV000559574 benign Hereditary spastic paraplegia 28 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848761 SCV002104592 benign Hereditary spastic paraplegia 2020-08-24 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716453 SCV005295517 benign not provided criteria provided, single submitter not provided

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