ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.9244C>A (p.Leu3082Ile)

gnomAD frequency: 0.00180  dbSNP: rs147372600
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243301 SCV000307832 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094979 SCV000453065 uncertain significance Primary ciliary dyskinesia 3 2018-01-13 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000300115 SCV000557992 likely benign Primary ciliary dyskinesia 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000300115 SCV002686811 benign Primary ciliary dyskinesia 2020-01-07 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.
Revvity Omics, Revvity RCV001094979 SCV003831731 uncertain significance Primary ciliary dyskinesia 3 2021-11-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV000300115 SCV001452463 uncertain significance Primary ciliary dyskinesia 2019-11-11 no assertion criteria provided clinical testing

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