ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val)

gnomAD frequency: 0.00595  dbSNP: rs117064287
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000153155 SCV000202622 benign not specified 2014-04-03 criteria provided, single submitter clinical testing
Invitae RCV000196489 SCV000252574 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000153155 SCV000307552 benign not specified 2016-04-26 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000196489 SCV000468036 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001535047 SCV001752025 likely benign not provided 2022-02-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001535047 SCV002545497 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing DNAH11: BP4, BS2
Genetics and Molecular Pathology, SA Pathology RCV002466448 SCV002761359 likely benign Primary ciliary dyskinesia 7 2019-12-19 criteria provided, single submitter clinical testing

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