ClinVar Miner

Submissions for variant NM_001369.2(DNAH5):c.3021G>T (p.Leu1007Phe) (rs188638970)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000241896 SCV000111547 benign not specified 2017-02-07 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000290211 SCV000453245 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000290211 SCV000558017 benign Primary ciliary dyskinesia 2017-12-13 criteria provided, single submitter clinical testing
PreventionGenetics RCV000241896 SCV000307740 benign not specified criteria provided, single submitter clinical testing

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