ClinVar Miner

Submissions for variant NM_005458.8(GABBR2):c.630+4C>T

gnomAD frequency: 0.00003  dbSNP: rs758380768
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001034232 SCV001197563 benign Epileptic encephalopathy 2024-12-15 criteria provided, single submitter clinical testing
GeneDx RCV001585931 SCV001812981 likely benign not provided 2019-06-25 criteria provided, single submitter clinical testing

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