ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.8252T>C (p.Ile2751Thr)

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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 RCV003536993 SCV004328211 benign Primary ciliary dyskinesia 2024-03-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV003536993 SCV004857358 uncertain significance Primary ciliary dyskinesia 2024-02-21 criteria provided, single submitter clinical testing The c.8252T>C (p.I2751T) alteration is located in exon 50 (coding exon 50) of the DNAH11 gene. This alteration results from a T to C substitution at nucleotide position 8252, causing the isoleucine (I) at amino acid position 2751 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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