ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.360T>C (p.Asp120=)

gnomAD frequency: 0.00011  dbSNP: rs368412855
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000863746 SCV001004456 benign Primary ciliary dyskinesia 2024-01-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002487897 SCV002795393 likely benign Primary ciliary dyskinesia 3 2021-07-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000863746 SCV001452720 uncertain significance Primary ciliary dyskinesia 2019-11-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003955605 SCV004776099 likely benign DNAH5-related disorder 2023-11-03 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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