ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2235C>T (p.Ser745=)

gnomAD frequency: 0.00003  dbSNP: rs200708414
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000930271 SCV001075921 likely benign not provided 2024-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000930271 SCV003925956 uncertain significance not provided 2022-11-21 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign with an ABCC8-related disorder to our knowledge; In silico analysis is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 32041611)
Natera, Inc. RCV001826948 SCV002075695 likely benign Hereditary hyperinsulinism 2020-01-31 no assertion criteria provided clinical testing

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