ClinVar Miner

Submissions for variant NM_001256789.3(CACNA1F):c.393G>A (p.Glu131=)

gnomAD frequency: 0.00003  dbSNP: rs781861736
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
Invitae RCV000916579 SCV001061823 likely benign not provided 2023-09-04 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001700505 SCV001917990 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000916579 SCV001976267 likely benign not provided no assertion criteria provided clinical testing

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