ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.1543T>A (p.Cys515Ser)

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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 RCV003779953 SCV003973814 uncertain significance Primary ciliary dyskinesia 2023-04-20 criteria provided, single submitter clinical testing The c.1543T>A (p.C515S) alteration is located in exon 8 (coding exon 8) of the DNAH11 gene. This alteration results from a T to A substitution at nucleotide position 1543, causing the cysteine (C) at amino acid position 515 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779953 SCV004614081 benign Primary ciliary dyskinesia 2023-09-24 criteria provided, single submitter clinical testing

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