ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.8029C>T (rs775946081)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232132 SCV000287098 pathogenic Primary ciliary dyskinesia 2020-10-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 2677 (p.Arg2677*) of the DNAH5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DNAH5 are known to be pathogenic. This particular variant has been reported in families with primary ciliary dyskinesia (PMID: 16627867, 19357118, 26228299). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV000232132 SCV001452281 pathogenic Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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