ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.990C>T (p.Leu330=)

gnomAD frequency: 0.00001  dbSNP: rs376448045
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248750 SCV000307610 likely benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000248750 SCV000967211 likely benign not specified 2013-02-21 criteria provided, single submitter clinical testing Leu330Leu in exon 6 of DNAH11: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/8168 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
Invitae RCV001429513 SCV001632228 likely benign Primary ciliary dyskinesia 2023-12-13 criteria provided, single submitter clinical testing

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