ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.1993-19dup

dbSNP: rs755741246
Minimum review status: Collection method:
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862053 SCV001002489 benign Hereditary spastic paraplegia 28 2025-01-27 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849154 SCV002104561 likely benign Hereditary spastic paraplegia 2020-08-24 criteria provided, single submitter clinical testing

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