ClinVar Miner

Submissions for variant NM_001807.6(CEL):c.402C>G (p.Gly134=)

gnomAD frequency: 0.00392  dbSNP: rs150358550
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000885392 SCV001028832 benign not provided 2017-12-29 criteria provided, single submitter clinical testing
GeneDx RCV000885392 SCV001804068 likely benign not provided 2021-09-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000885392 SCV002564079 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing CEL: BP4, BP7, BS2
Fulgent Genetics, Fulgent Genetics RCV002507566 SCV002798509 likely benign Maturity-onset diabetes of the young type 8 2021-09-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV002507566 SCV004564054 benign Maturity-onset diabetes of the young type 8 2023-06-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000885392 SCV005226004 likely benign not provided criteria provided, single submitter not provided

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