ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2524G>A (p.Gly842Arg)

gnomAD frequency: 0.00023  dbSNP: rs146047094
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638948 SCV000760505 benign Familial aplasia of the vermis; Orofaciodigital syndrome I 2023-11-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315959 SCV000847695 likely benign Primary ciliary dyskinesia; Inborn genetic diseases 2016-08-30 criteria provided, single submitter clinical testing This alteration is classified as likely 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 RCV001709677 SCV001937913 benign not provided 2020-02-28 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 29955609, 32047782)
Dept Of Ophthalmology, Nagoya University RCV003889940 SCV004707059 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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