ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.1720+9G>A

gnomAD frequency: 0.00001  dbSNP: rs745620727
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 RCV000910120 SCV001054963 likely benign Hereditary spastic paraplegia 54 2019-12-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705908 SCV005223404 likely benign not provided criteria provided, single submitter not provided

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