ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.1923G>A (p.Glu641=)

gnomAD frequency: 0.00298  dbSNP: rs145300245
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000080341 SCV000112236 benign not specified 2013-10-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000080341 SCV000248387 benign not specified 2016-03-18 criteria provided, single submitter clinical testing
Invitae RCV000206456 SCV000260360 benign Familial aplasia of the vermis; Orofaciodigital syndrome I 2024-01-29 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000080341 SCV000309726 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV002316205 SCV000849771 benign Primary ciliary dyskinesia; Inborn genetic diseases 2017-02-07 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics Inc RCV000080341 SCV001475330 benign not specified 2019-10-02 criteria provided, single submitter clinical testing
GeneDx RCV001529335 SCV001863987 benign not provided 2018-09-20 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18546297)
Fulgent Genetics, Fulgent Genetics RCV002504862 SCV002806570 likely benign Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 2021-08-30 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529335 SCV001742605 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000080341 SCV001918636 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529335 SCV001931442 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001529335 SCV001967816 likely benign not provided no assertion criteria provided clinical testing

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