ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2041-28C>T

gnomAD frequency: 0.01293  dbSNP: rs116419577
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001565698 SCV001789094 likely benign not provided 2018-11-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001827487 SCV002075728 benign Hereditary hyperinsulinism 2019-10-16 no assertion criteria provided clinical testing

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