ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1435del (p.Ile479fs)

dbSNP: rs2145051267
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Medicine Lab, University of California San Francisco RCV001376055 SCV001573071 likely pathogenic Episodic ataxia type 2 2020-07-16 criteria provided, single submitter clinical testing
Genomic Medicine Lab, University of California San Francisco RCV002286430 SCV002576354 likely pathogenic Global developmental delay criteria provided, single submitter clinical testing

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