ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.279C>A (p.Ile93=)

gnomAD frequency: 0.00001  dbSNP: rs550990673
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000376852 SCV000338369 uncertain significance not provided 2015-12-22 criteria provided, single submitter clinical testing
Invitae RCV000376852 SCV001013826 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276288 SCV001462397 uncertain significance Hereditary hyperinsulinism 2020-04-10 no assertion criteria provided clinical testing

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