ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8782G>A (p.Asp2928Asn)

dbSNP: rs768758217
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002050005 SCV002115966 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002050005 SCV005109639 uncertain significance Primary ciliary dyskinesia 2024-03-19 criteria provided, single submitter clinical testing The c.8782G>A (p.D2928N) alteration is located in exon 53 (coding exon 53) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 8782, causing the aspartic acid (D) at amino acid position 2928 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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