ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.5395A>C (p.Ile1799Leu)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003535016 SCV004070940 uncertain significance Primary ciliary dyskinesia 2023-08-04 criteria provided, single submitter clinical testing The c.5395A>C (p.I1799L) alteration is located in exon 31 (coding exon 31) of the DNAH11 gene. This alteration results from a A to C substitution at nucleotide position 5395, causing the isoleucine (I) at amino acid position 1799 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003535016 SCV004279221 benign Primary ciliary dyskinesia 2023-12-14 criteria provided, single submitter clinical testing

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