ClinVar Miner

Submissions for variant NM_153033.5(KCTD7):c.696del (p.Phe232fs)

dbSNP: rs2116775509
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV001844363 SCV001870486 pathogenic Progressive myoclonic epilepsy type 3 2021-04-29 no assertion criteria provided research

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