ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.3514C>A (p.Gln1172Lys) (rs141168110)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150483 SCV000197669 likely benign not specified 2013-02-21 criteria provided, single submitter clinical testing p.Gln1172Lys in exon 23 of DNAH5: This variant is not expected to have clinical significance because it has been identified in 0.3% (26/8600) of European Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS; dbSNP rs141168110).
Invitae RCV000199834 SCV000252762 benign Primary ciliary dyskinesia 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000667191 SCV000791608 uncertain significance Ciliary dyskinesia, primary, 3 2017-05-18 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000667191 SCV001318034 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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