ClinVar Miner

Submissions for variant NM_003114.5(SPAG1):c.1584G>A (p.Ala528=)

gnomAD frequency: 0.00346  dbSNP: rs35252724
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000465901 SCV000562165 benign Primary ciliary dyskinesia 28 2025-01-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402361 SCV002705189 benign Primary ciliary dyskinesia 2016-10-19 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.
Fulgent Genetics, Fulgent Genetics RCV000465901 SCV002799039 likely benign Primary ciliary dyskinesia 28 2022-05-03 criteria provided, single submitter clinical testing

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