ClinVar Miner

Submissions for variant NM_001364171.2(ODAD1):c.918C>T (p.Asp306=)

gnomAD frequency: 0.17921  dbSNP: rs2242463
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247564 SCV000315984 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001516686 SCV001724999 benign Primary ciliary dyskinesia 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001660360 SCV001881375 benign not provided 2018-11-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV001516686 SCV002755607 benign Primary ciliary dyskinesia 2016-07-09 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.
Breakthrough Genomics, Breakthrough Genomics RCV001660360 SCV005313340 benign not provided criteria provided, single submitter not provided

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