ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.1995G>A (p.Thr665=)

gnomAD frequency: 0.00019  dbSNP: rs376641545
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000991662 SCV001143314 benign not provided 2018-10-26 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000991662 SCV001248628 likely benign not provided 2019-10-01 criteria provided, single submitter clinical testing
Invitae RCV001326079 SCV001517093 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2021-09-24 criteria provided, single submitter clinical testing

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