ClinVar Miner

Submissions for variant NM_023036.6(DNAI2):c.1131G>A (p.Pro377=)

gnomAD frequency: 0.01236  dbSNP: rs59499600
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Preventiongenetics, part of Exact Sciences RCV000243505 SCV000314135 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000398227 SCV000406360 benign Primary ciliary dyskinesia 9 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000858142 SCV000559743 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001568723 SCV001792644 likely benign not provided 2019-03-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000858142 SCV002610213 benign Primary ciliary dyskinesia 2015-08-03 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000398227 SCV004564104 benign Primary ciliary dyskinesia 9 2023-11-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV000858142 SCV001459507 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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