ClinVar Miner

Submissions for variant NM_024411.5(PDYN):c.635G>A (p.Arg212Gln)

gnomAD frequency: 0.00008  dbSNP: rs138498390
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV002261376 SCV002541673 uncertain significance not provided 2022-01-12 criteria provided, single submitter clinical testing
Athena Diagnostics RCV004998957 SCV005621894 likely benign not specified 2024-02-16 criteria provided, single submitter clinical testing
O&I group, Department of Genetics, University Medical Center of Groningen RCV001849208 SCV001960850 uncertain significance Spinocerebellar ataxia type 23 2021-07-22 no assertion criteria provided research

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