ClinVar Miner

Submissions for variant NM_004977.3(KCNC3):c.991G>A (p.Gly331Arg)

gnomAD frequency: 0.00001  dbSNP: rs1305901422
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000712097 SCV000842517 uncertain significance not provided 2019-07-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765466 SCV000896757 uncertain significance Spinocerebellar ataxia type 13 2018-10-31 criteria provided, single submitter clinical testing

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