ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.3301G>A (p.Val1101Met)

gnomAD frequency: 0.01505  dbSNP: rs61747516
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150484 SCV000197670 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Val1101Met in exon 22 of DNAH5: This variant is not expected to have clinical si gnificance because it has been identified in 4.1% (180/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs61747516).
PreventionGenetics, part of Exact Sciences RCV000150484 SCV000307744 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000665924 SCV000453239 benign Primary ciliary dyskinesia 3 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000273503 SCV000558040 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
Counsyl RCV000665924 SCV000790132 likely benign Primary ciliary dyskinesia 3 2017-03-06 criteria provided, single submitter clinical testing
GeneDx RCV002225454 SCV002504636 likely benign not provided 2024-02-23 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000665924 SCV002506079 benign Primary ciliary dyskinesia 3 2023-09-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV000273503 SCV002607080 benign Primary ciliary dyskinesia 2015-01-16 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 RCV002225454 SCV005259650 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000273503 SCV001458406 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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