ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.3016A>G (p.Ser1006Gly) (rs16902886)

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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 RCV000150486 SCV000197672 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ser1006Gly in exon 20 of DNAH5: This variant is not expected to have clinical si gnificance because it has been identified in 4.1% (182/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs16902886).
PreventionGenetics,PreventionGenetics RCV000150486 SCV000307739 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001095027 SCV000453246 likely 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 allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV000340646 SCV000558015 benign Primary ciliary dyskinesia 2020-11-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV000340646 SCV001458413 benign Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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