ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.576A>G (p.Ile192Met)

gnomAD frequency: 0.00876  dbSNP: rs72655972
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150425 SCV000197605 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ile192Met in exon 3 of DNAH11: This variant is not expected to have clinical sig nificance because it has been identified in 7.3% (13/178) of Japanese chromosome s from a broad population by the 1000 Genomes Project (http://www.ncbi.nlm.nih.g ov/projects/SNP; dbSNP rs72655972).
Eurofins Ntd Llc (ga) RCV000150425 SCV000228957 benign not specified 2014-06-27 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000150425 SCV000307542 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000259236 SCV000468035 likely benign Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000259236 SCV000561953 benign Primary ciliary dyskinesia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001705969 SCV001829391 benign not provided 2019-01-16 criteria provided, single submitter clinical testing

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