ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5675C>T (p.Ala1892Val)

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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 RCV003653834 SCV004462511 benign Primary ciliary dyskinesia 2024-01-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV003653834 SCV005109653 uncertain significance Primary ciliary dyskinesia 2024-04-04 criteria provided, single submitter clinical testing The c.5675C>T (p.A1892V) alteration is located in exon 33 (coding exon 33) of the DNAH11 gene. This alteration results from a C to T substitution at nucleotide position 5675, causing the alanine (A) at amino acid position 1892 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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