ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.10091G>T (p.Arg3364Leu)

dbSNP: rs369682703
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000629472 SCV000750416 likely benign Primary ciliary dyskinesia 2024-05-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499027 SCV002777720 uncertain significance Primary ciliary dyskinesia 7 2022-03-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000629472 SCV004858245 uncertain significance Primary ciliary dyskinesia 2024-01-24 criteria provided, single submitter clinical testing The c.10091G>T (p.R3364L) alteration is located in exon 62 (coding exon 62) of the DNAH11 gene. This alteration results from a G to T substitution at nucleotide position 10091, causing the arginine (R) at amino acid position 3364 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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