ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu)

gnomAD frequency: 0.00009  dbSNP: rs551380805
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000710087 SCV000572076 benign not provided 2019-08-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710087 SCV000612521 benign not provided 2018-03-12 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000710087 SCV000860310 uncertain significance not provided 2018-04-03 criteria provided, single submitter clinical testing
Invitae RCV001431438 SCV001634195 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-01-25 criteria provided, single submitter clinical testing

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