ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.8837G>A (p.Arg2946His)

gnomAD frequency: 0.00012  dbSNP: rs140975593
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000818210 SCV000958811 benign Primary ciliary dyskinesia 2024-10-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000818210 SCV003694131 uncertain significance Primary ciliary dyskinesia 2021-08-09 criteria provided, single submitter clinical testing The c.8837G>A (p.R2946H) alteration is located in exon 53 (coding exon 53) of the DNAH5 gene. This alteration results from a G to A substitution at nucleotide position 8837, causing the arginine (R) at amino acid position 2946 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004693375 SCV005189422 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV000818210 SCV001452470 uncertain significance Primary ciliary dyskinesia 2019-12-31 no assertion criteria provided clinical testing

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