ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.566G>A (p.Arg189Gln)

gnomAD frequency: 0.00056  dbSNP: rs148873732
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001287981 SCV001474755 uncertain significance not provided 2022-04-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001287981 SCV004185054 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing ANO10: BP4

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