ClinVar Miner

Submissions for variant NM_001369.3(DNAH5):c.7065T>C (p.Asp2355=)

gnomAD frequency: 0.00128  dbSNP: rs149045168
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252484 SCV000307811 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000460975 SCV000558051 benign Primary ciliary dyskinesia 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000460975 SCV002662453 likely benign Primary ciliary dyskinesia 2017-04-17 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Breakthrough Genomics, Breakthrough Genomics RCV004710648 SCV005259619 likely benign not provided criteria provided, single submitter not provided

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