ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.2156A>G (p.Asn719Ser)

gnomAD frequency: 0.00004  dbSNP: rs551038953
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000375086 SCV000468063 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002523591 SCV003653298 uncertain significance Inborn genetic diseases 2022-10-03 criteria provided, single submitter clinical testing The c.2156A>G (p.N719S) alteration is located in exon 12 (coding exon 12) of the DNAH11 gene. This alteration results from a A to G substitution at nucleotide position 2156, causing the asparagine (N) at amino acid position 719 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Invitae RCV000375086 SCV004295854 likely benign Primary ciliary dyskinesia 2024-01-09 criteria provided, single submitter clinical testing

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