ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.2047T>A (p.Cys683Ser)

gnomAD frequency: 0.00254  dbSNP: rs148536791
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000546720 SCV000652447 benign Hereditary spastic paraplegia 54 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000614598 SCV000730702 benign not specified 2017-11-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848966 SCV002104611 likely benign Hereditary spastic paraplegia 2018-05-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002275069 SCV002563998 benign not provided 2023-02-01 criteria provided, single submitter clinical testing DDHD2: BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV002275069 SCV005223405 likely benign not provided criteria provided, single submitter not provided

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.