ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.712+16G>A

gnomAD frequency: 0.00150  dbSNP: rs71524367
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000196951 SCV000252517 likely benign not specified 2017-09-01 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.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia RCV000196951 SCV000258032 benign not specified 2015-07-10 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000487791 SCV000575392 likely benign not provided 2022-01-01 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000487791 SCV000610974 likely benign not provided 2017-05-15 criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000196951 SCV000855690 benign not specified 2017-07-20 criteria provided, single submitter clinical testing
Mendelics RCV000987405 SCV001136694 benign Wolfram syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000487791 SCV001730803 benign not provided 2021-12-13 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000487791 SCV001924429 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000196951 SCV001959508 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000487791 SCV001974573 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000487791 SCV002035640 likely benign not provided no assertion criteria provided clinical testing

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