ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.829-287del

dbSNP: rs35839446
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001614139 SCV001837510 benign not provided 2019-08-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004017853 SCV004849179 likely benign Primary ciliary dyskinesia 2015-08-05 criteria provided, single submitter clinical testing This alteration is classified as likely 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.

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