ClinVar Miner

Submissions for variant NM_005458.8(GABBR2):c.1896G>A (p.Pro632=)

gnomAD frequency: 0.00003  dbSNP: rs373578537
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000822217 SCV000963008 benign Epileptic encephalopathy 2023-10-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001093091 SCV001249910 uncertain significance not provided 2019-07-01 criteria provided, single submitter clinical testing

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