ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.1090-8T>C (rs16902950)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231512 SCV000287052 benign Primary ciliary dyskinesia 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000244806 SCV000307666 benign not specified criteria provided, single submitter clinical testing
Counsyl RCV000665813 SCV000789992 likely benign Ciliary dyskinesia, primary, 3 2017-03-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000665813 SCV001315689 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.

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