ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.2993A>G (p.Asn998Ser)

gnomAD frequency: 0.00001  dbSNP: rs368692202
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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 RCV000464679 SCV000551727 benign Primary ciliary dyskinesia 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000464679 SCV002746930 uncertain significance Primary ciliary dyskinesia 2021-07-27 criteria provided, single submitter clinical testing The c.2993A>G (p.N998S) alteration is located in exon 15 (coding exon 15) of the DNAH11 gene. This alteration results from a A to G substitution at nucleotide position 2993, causing the asparagine (N) at amino acid position 998 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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