ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1182= (p.Glu394=)

gnomAD frequency: 0.35990  dbSNP: rs2248069
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000710928 SCV000841238 benign not provided 2018-05-04 criteria provided, single submitter clinical testing

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