ClinVar Miner

Submissions for variant NM_001127644.2(GABRA1):c.857-9del

dbSNP: rs3214859
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173712 SCV000224857 benign not specified 2015-01-07 criteria provided, single submitter clinical testing
GeneDx RCV001546874 SCV001766471 likely benign not provided 2019-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002054056 SCV002425257 benign Idiopathic generalized epilepsy; Epilepsy, idiopathic generalized, susceptibility to, 13; Epilepsy, childhood absence 4 2024-01-29 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000173712 SCV001739884 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000173712 SCV001929240 benign not specified no assertion criteria provided clinical testing

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