ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.817T>C (p.Ser273Pro)

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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 RCV003649441 SCV003941599 uncertain significance Primary ciliary dyskinesia 2023-04-13 criteria provided, single submitter clinical testing The c.817T>C (p.S273P) alteration is located in exon 4 (coding exon 4) of the DNAH11 gene. This alteration results from a T to C substitution at nucleotide position 817, causing the serine (S) at amino acid position 273 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003649441 SCV004425466 benign Primary ciliary dyskinesia 2023-12-19 criteria provided, single submitter clinical testing

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