ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.10294G>T (p.Val3432Leu) (rs143251588)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000218494 SCV000270144 likely benign not specified 2015-08-12 criteria provided, single submitter clinical testing p.Val3432Leu in exon 61 of DNAH5: This variant is not expected to have clinical significance because it has been identified in 0.7% (71/10404) of African chromo somes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs143251588).
PreventionGenetics,PreventionGenetics RCV000218494 SCV000307661 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000457798 SCV000558045 likely benign Primary ciliary dyskinesia 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000218494 SCV000861407 likely benign not specified 2018-05-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001153065 SCV001314315 uncertain significance Ciliary dyskinesia, primary, 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, 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.

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