ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.2604T>C (p.Thr868=)

gnomAD frequency: 0.00001  dbSNP: rs1339243582
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001419698 SCV001621958 likely benign Hereditary spastic paraplegia 28 2024-11-26 criteria provided, single submitter clinical testing

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