ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7626G>T (p.Thr2542=)

dbSNP: rs2072221
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250868 SCV000307576 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000306683 SCV000468150 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000306683 SCV000561948 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001706327 SCV001874819 likely benign not provided 2021-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003114422 SCV003799298 benign Primary ciliary dyskinesia 7 2023-09-22 criteria provided, single submitter clinical testing

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