ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.10457T>C (p.Met3486Thr) (rs141651941)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000228740 SCV000287051 benign Primary ciliary dyskinesia 2020-12-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000241639 SCV000307663 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001151818 SCV001312989 benign Ciliary dyskinesia, primary, 3 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000241639 SCV001365794 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Met3486Thr in exon 62 of DNAH5: This variant is not expected to have clinical significance because it has been identified in 3.8% (5/132) of Mexican chromosomes from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs141651941).
Natera, Inc. RCV000228740 SCV001452264 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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