ClinVar Miner

Submissions for variant NM_018076.5(ODAD2):c.995A>G (p.Lys332Arg)

gnomAD frequency: 0.00307  dbSNP: rs148930400
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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 RCV000231529 SCV000290435 likely benign Primary ciliary dyskinesia 23 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002461015 SCV002755804 likely benign Primary ciliary dyskinesia 2022-07-12 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.
CeGaT Center for Human Genetics Tuebingen RCV003417835 SCV004126592 benign not provided 2023-09-01 criteria provided, single submitter clinical testing ODAD2: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003417835 SCV005227688 likely benign not provided criteria provided, single submitter not provided

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