ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.10658G>A (p.Arg3553Gln)

gnomAD frequency: 0.00009  dbSNP: rs144393366
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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 RCV001047486 SCV001211448 likely benign Primary ciliary dyskinesia 2024-05-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002481936 SCV002804021 uncertain significance Primary ciliary dyskinesia 3 2021-11-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004597953 SCV005093544 uncertain significance not provided 2024-07-01 criteria provided, single submitter clinical testing DNAH5: PM2, BP4
Natera, Inc. RCV001047486 SCV001452262 uncertain significance Primary ciliary dyskinesia 2020-09-16 no assertion criteria provided clinical testing

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