ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4539_4540del (p.Phe1513fs)

dbSNP: rs2056600391
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV001250805 SCV001426288 pathogenic Episodic ataxia type 2 2020-06-25 criteria provided, single submitter clinical testing

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