ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr)

gnomAD frequency: 0.00381  dbSNP: rs149647255
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146985 SCV000194321 benign not specified 2014-05-01 criteria provided, single submitter clinical testing
Invitae RCV000477252 SCV000554665 benign Familial aplasia of the vermis; Orofaciodigital syndrome I 2024-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316947 SCV000849909 benign Primary ciliary dyskinesia; Inborn genetic diseases 2017-01-10 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.
GeneDx RCV001689688 SCV001909848 benign not provided 2018-07-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492533 SCV002803763 likely benign Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 2021-09-27 criteria provided, single submitter clinical testing

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