ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.1535T>C (p.Met512Thr)

dbSNP: rs72655984
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000321749 SCV000468053 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000321749 SCV003486054 benign Primary ciliary dyskinesia 2024-01-25 criteria provided, single submitter clinical testing

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