ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.453G>A (p.Pro151=)

gnomAD frequency: 0.00610  dbSNP: rs141323589
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439468 SCV000518526 benign not specified 2016-02-16 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 RCV000475122 SCV000559573 benign Hereditary spastic paraplegia 28 2025-02-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848750 SCV002104593 benign Hereditary spastic paraplegia 2021-08-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004715146 SCV005295506 benign not provided criteria provided, single submitter not provided

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