ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.7309C>T (p.Arg2437Cys)

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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 RCV002380028 SCV002671009 uncertain significance Primary ciliary dyskinesia 2024-08-12 criteria provided, single submitter clinical testing The c.7309C>T (p.R2437C) alteration is located in exon 44 (coding exon 44) of the DNAH5 gene. This alteration results from a C to T substitution at nucleotide position 7309, causing the arginine (R) at amino acid position 2437 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 RCV002380028 SCV003032120 benign Primary ciliary dyskinesia 2024-10-25 criteria provided, single submitter clinical testing

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