ClinVar Miner

Submissions for variant NM_001486.4(GCKR):c.1337_1338delinsCC (p.Leu446Pro)

dbSNP: rs2148586064
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002182980 SCV002345020 likely benign not provided 2023-11-06 criteria provided, single submitter clinical testing
GeneDx RCV002182980 SCV002571550 uncertain significance not provided 2022-09-02 criteria provided, single submitter clinical testing In-frame deletion/insertion of the last two nucleotides of the exon resulting in a missense substitution; In silico analysis supports a deleterious effect on splicing; Has not been previously published as pathogenic or benign to our knowledge

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