ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.2732A>G (p.Asn911Ser)

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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 RCV003534993 SCV003906107 uncertain significance Primary ciliary dyskinesia 2023-02-27 criteria provided, single submitter clinical testing The c.2732A>G (p.N911S) alteration is located in exon 18 (coding exon 18) of the DNAH5 gene. This alteration results from a A to G substitution at nucleotide position 2732, causing the asparagine (N) at amino acid position 911 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003534993 SCV004299816 likely benign Primary ciliary dyskinesia 2023-08-16 criteria provided, single submitter clinical testing

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