ClinVar Miner

Submissions for variant NM_004977.3(KCNC3):c.2245G>A (p.Ala749Thr)

gnomAD frequency: 0.00005  dbSNP: rs1365532889
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001727114 SCV001962215 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002503177 SCV002813504 uncertain significance Spinocerebellar ataxia type 13 2021-11-18 criteria provided, single submitter clinical testing

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