ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.1966C>T (p.Arg656Cys)

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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 RCV002423401 SCV002718916 uncertain significance Primary ciliary dyskinesia 2021-08-13 criteria provided, single submitter clinical testing The c.1966C>T (p.R656C) alteration is located in exon 11 (coding exon 11) of the DNAH11 gene. This alteration results from a C to T substitution at nucleotide position 1966, causing the arginine (R) at amino acid position 656 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV002423401 SCV003524151 benign Primary ciliary dyskinesia 2024-01-11 criteria provided, single submitter clinical testing

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