ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.11805G>A (p.Pro3935=)

gnomAD frequency: 0.00361  dbSNP: rs187489343
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252058 SCV000307439 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000252058 SCV000332503 likely benign not specified 2015-07-09 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000391629 SCV000468215 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000391629 SCV000561997 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing

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