ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.960G>A (p.Gln320=)

gnomAD frequency: 0.00001  dbSNP: rs2139724476
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848400 SCV002104597 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002077334 SCV002432933 likely benign Hereditary spastic paraplegia 28 2021-09-24 criteria provided, single submitter clinical testing

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