ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6295G>A (p.Asp2099Asn)

gnomAD frequency: 0.00002  dbSNP: rs750251384
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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 RCV004020521 SCV000260344 benign Primary ciliary dyskinesia 2023-04-22 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503807 SCV002776491 uncertain significance Primary ciliary dyskinesia 7 2021-11-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV004020521 SCV004857341 uncertain significance Primary ciliary dyskinesia 2024-01-09 criteria provided, single submitter clinical testing The c.6295G>A (p.D2099N) alteration is located in exon 38 (coding exon 38) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 6295, causing the aspartic acid (D) at amino acid position 2099 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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