ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.11617G>A (p.Glu3873Lys)

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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 RCV002613435 SCV002954111 likely benign Primary ciliary dyskinesia 2024-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002613435 SCV005117042 uncertain significance Primary ciliary dyskinesia 2024-03-20 criteria provided, single submitter clinical testing The c.11617G>A (p.E3873K) alteration is located in exon 68 (coding exon 68) of the DNAH5 gene. This alteration results from a G to A substitution at nucleotide position 11617, causing the glutamic acid (E) at amino acid position 3873 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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