ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2556+30C>T

gnomAD frequency: 0.00367  dbSNP: rs76285388
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001593906 SCV001825101 likely benign not provided 2019-06-30 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827538 SCV002075684 benign Hereditary hyperinsulinism 2019-10-21 no assertion criteria provided clinical testing

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