ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.640A>G (p.Ile214Val) (rs117064287)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153155 SCV000202622 benign not specified 2014-04-03 criteria provided, single submitter clinical testing
Invitae RCV000196489 SCV000252574 benign Primary ciliary dyskinesia 2020-11-25 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000153155 SCV000307552 benign not specified 2016-04-26 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000196489 SCV000468036 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001535047 SCV001752025 likely benign not provided 2020-01-22 criteria provided, single submitter clinical testing

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