ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.2200C>G (p.Leu734Val)

gnomAD frequency: 0.00030  dbSNP: rs139180192
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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 RCV000698730 SCV000827411 likely benign Primary ciliary dyskinesia 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000698730 SCV002728192 benign Primary ciliary dyskinesia 2023-12-13 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Revvity Omics, Revvity RCV003144544 SCV003831734 uncertain significance Primary ciliary dyskinesia 3 2020-08-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000698730 SCV002081787 uncertain significance Primary ciliary dyskinesia 2019-10-28 no assertion criteria provided clinical testing

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