ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8878A>G (p.Met2960Val)

gnomAD frequency: 0.00004  dbSNP: rs766857244
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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 RCV001066809 SCV001231829 benign Primary ciliary dyskinesia 2023-10-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001066809 SCV003943099 uncertain significance Primary ciliary dyskinesia 2023-04-25 criteria provided, single submitter clinical testing The c.8878A>G (p.M2960V) alteration is located in exon 54 (coding exon 54) of the DNAH11 gene. This alteration results from a A to G substitution at nucleotide position 8878, causing the methionine (M) at amino acid position 2960 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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