ClinVar Miner

Submissions for variant NM_018075.5(ANO10):c.88G>C (p.Glu30Gln)

gnomAD frequency: 0.00085  dbSNP: rs147605535
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV001287985 SCV001474759 uncertain significance not provided 2022-04-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001287985 SCV004185055 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing ANO10: BS1
Invitae RCV001287985 SCV004553208 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing

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