ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4608+54G>C

gnomAD frequency: 0.71546  dbSNP: rs4148646
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001520134 SCV001729169 benign not provided 2024-10-28 criteria provided, single submitter clinical testing
GeneDx RCV001520134 SCV001745588 benign not provided 2018-08-09 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 14551916)
Pars Genome Lab RCV001533244 SCV001749047 benign Leucine-induced hypoglycemia 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533253 SCV001749064 benign Hyperinsulinemic hypoglycemia, familial, 1 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533254 SCV001749065 benign Diabetes mellitus, transient neonatal, 2 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533255 SCV001749066 benign Diabetes mellitus, permanent neonatal 3 2021-07-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001520134 SCV005323549 benign not provided criteria provided, single submitter not provided

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