ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.6748G>A (p.Glu2250Lys)

gnomAD frequency: 0.00014  dbSNP: rs201285946
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000468270 SCV000546305 likely benign Primary ciliary dyskinesia 2024-11-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004696213 SCV005189424 uncertain significance not provided criteria provided, single submitter not provided
Natera, Inc. RCV000468270 SCV002080885 uncertain significance Primary ciliary dyskinesia 2020-02-21 no assertion criteria provided clinical testing

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