ClinVar Miner

Submissions for variant NM_001486.4(GCKR):c.1337T>C (p.Leu446Pro)

gnomAD frequency: 0.67353  dbSNP: rs1260326
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001618209 SCV001844235 benign not provided 2018-10-12 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 33588820, 28082259, 24918535, 22001757, 31118516, 30297969, 30315176, 30420299, 29632382, 29083407, 27516387, 27798624, 23586973, 28385800, 27346689, 26174136, 26043229, 26551672, 27398621, 28008009, 18556336, 23383164, 23894584, 21674002, 21423719, 22182842, 21525158, 19526250, 19643913, 24879641, 22038520, 18678614, 22958899)
Labcorp Genetics (formerly Invitae), Labcorp RCV001618209 SCV002403392 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001618209 SCV005246705 benign not provided criteria provided, single submitter not provided
OMIM RCV000009294 SCV000029512 association Fasting plasma glucose level quantitative trait locus 5 2010-02-01 no assertion criteria provided literature only

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