ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.6847G>A (p.Ala2283Thr)

gnomAD frequency: 0.00004  dbSNP: rs372264255
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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 RCV000690685 SCV000818384 benign Primary ciliary dyskinesia 2024-10-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000690685 SCV003734861 uncertain significance Primary ciliary dyskinesia 2021-08-17 criteria provided, single submitter clinical testing The c.6847G>A (p.A2283T) alteration is located in exon 42 (coding exon 42) of the DNAH11 gene. This alteration results from a G to A substitution at nucleotide position 6847, causing the alanine (A) at amino acid position 2283 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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