ClinVar Miner

Submissions for variant NM_001277115.2(DNAH11):c.7471C>T (p.Arg2491Cys)

dbSNP: rs267601454
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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 RCV002971408 SCV003283943 benign Primary ciliary dyskinesia 2023-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002971408 SCV003536619 uncertain significance Primary ciliary dyskinesia 2022-09-27 criteria provided, single submitter clinical testing The c.7471C>T (p.R2491C) alteration is located in exon 46 (coding exon 46) of the DNAH11 gene. This alteration results from a C to T substitution at nucleotide position 7471, causing the arginine (R) at amino acid position 2491 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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