ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.1524A>G (p.Gln508=)

gnomAD frequency: 0.00150  dbSNP: rs138906273
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001171673 SCV000518710 likely benign not provided 2019-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000531611 SCV000638731 benign Hereditary spastic paraplegia 28 2024-01-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001171673 SCV001334487 likely benign not provided 2024-08-01 criteria provided, single submitter clinical testing DDHD1: BP4, BP7
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848751 SCV002104574 likely benign Hereditary spastic paraplegia 2021-03-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001171673 SCV005212055 likely benign not provided criteria provided, single submitter not provided

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