ClinVar Miner

Submissions for variant NM_170665.4(ATP2A2):c.464-70C>A

gnomAD frequency: 0.00468  dbSNP: rs183641769
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988907 SCV001138820 benign Keratosis follicularis 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002549719 SCV003740153 benign Inborn genetic diseases 2022-05-18 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001529068 SCV001741895 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001529068 SCV001932518 benign not specified no assertion criteria provided clinical testing

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