ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10158T>C (p.Leu3386=)

gnomAD frequency: 0.00002  dbSNP: rs778649796
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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 RCV001159375 SCV001321084 uncertain significance Primary ciliary dyskinesia 7 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV003537486 SCV004271208 benign Primary ciliary dyskinesia 2023-10-22 criteria provided, single submitter clinical testing

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