ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.643C>T (p.Pro215Ser)

gnomAD frequency: 0.00002  dbSNP: rs995773912
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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 RCV001991090 SCV002261464 likely benign Primary ciliary dyskinesia 2024-01-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV001991090 SCV002656781 uncertain significance Primary ciliary dyskinesia 2024-02-21 criteria provided, single submitter clinical testing The c.643C>T (p.P215S) alteration is located in exon 3 (coding exon 3) of the DNAH11 gene. This alteration results from a C to T substitution at nucleotide position 643, causing the proline (P) at amino acid position 215 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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