ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2052C>G (p.Ser684=)

dbSNP: rs61742891
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000175045 SCV000226472 benign not specified 2014-10-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000175045 SCV000309727 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000559679 SCV000637357 benign Familial aplasia of the vermis; Orofaciodigital syndrome I 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000175045 SCV000729610 benign not specified 2017-07-17 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.
Ambry Genetics RCV004020076 SCV000847813 benign Primary ciliary dyskinesia 2015-07-12 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Breakthrough Genomics, Breakthrough Genomics RCV001795293 SCV005279177 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001795293 SCV002033854 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000175045 SCV002034434 benign not specified no assertion criteria provided clinical testing

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