ClinVar Miner

Submissions for variant NM_018897.3(DNAH7):c.11947C>T (p.Arg3983Trp)

gnomAD frequency: 0.00734  dbSNP: rs114621989
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000963426 SCV001110578 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000963426 SCV004148319 benign not provided 2022-06-01 criteria provided, single submitter clinical testing DNAH7: BS1, BS2
Laboratory of Cell Biology, Institute of Biomedical Sciences Abel Salazar (ICBAS) RCV000736282 SCV000864131 pathogenic Primary ciliary dyskinesia; Abdominal situs inversus 2018-12-03 no assertion criteria provided clinical testing

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