ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.5281C>G (p.Arg1761Gly) (rs148891849)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000242807 SCV000307789 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001081786 SCV000558009 benign Primary ciliary dyskinesia 2020-12-05 criteria provided, single submitter clinical testing
GeneDx RCV000766911 SCV000619150 likely benign not provided 2021-02-10 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 27637763)
Illumina Clinical Services Laboratory,Illumina RCV001152318 SCV001313530 likely benign Ciliary dyskinesia, primary, 3 2017-04-28 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Natera, Inc. RCV001081786 SCV001458591 likely benign Primary ciliary dyskinesia 2020-01-01 no assertion criteria provided clinical testing

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