ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6185A>G (p.His2062Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003534989 SCV003866820 uncertain significance Primary ciliary dyskinesia 2023-01-18 criteria provided, single submitter clinical testing The c.6185A>G (p.H2062R) alteration is located in exon 37 (coding exon 37) of the DNAH11 gene. This alteration results from a A to G substitution at nucleotide position 6185, causing the histidine (H) at amino acid position 2062 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003534989 SCV004323615 benign Primary ciliary dyskinesia 2024-11-25 criteria provided, single submitter clinical testing

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