ClinVar Miner

Submissions for variant NM_001160148.2(DDHD1):c.2160C>T (p.Thr720=)

gnomAD frequency: 0.00001  dbSNP: rs377049663
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001502254 SCV001707081 likely benign Hereditary spastic paraplegia 28 2021-12-09 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847097 SCV002104583 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing

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