ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2929-18C>T

gnomAD frequency: 0.00601  dbSNP: rs180940027
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248221 SCV000309731 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000248221 SCV000518610 benign not specified 2016-10-06 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.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514293 SCV000610070 benign not provided 2017-06-20 criteria provided, single submitter clinical testing
Invitae RCV001516950 SCV001725325 benign Familial aplasia of the vermis; Orofaciodigital syndrome I 2024-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002479967 SCV002799064 likely benign Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 2021-07-23 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000248221 SCV001740114 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000248221 SCV001917907 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000248221 SCV001929006 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000248221 SCV001970302 benign not specified no assertion criteria provided clinical testing

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