ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8972C>T (p.Thr2991Met)

gnomAD frequency: 0.00002  dbSNP: rs375595192
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000398962 SCV000468169 uncertain significance Primary ciliary dyskinesia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000398962 SCV001555744 benign Primary ciliary dyskinesia 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000398962 SCV005109630 uncertain significance Primary ciliary dyskinesia 2024-03-25 criteria provided, single submitter clinical testing The c.8972C>T (p.T2991M) alteration is located in exon 55 (coding exon 55) of the DNAH11 gene. This alteration results from a C to T substitution at nucleotide position 8972, causing the threonine (T) at amino acid position 2991 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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