ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.270G>A (p.Lys90=)

gnomAD frequency: 0.00005  dbSNP: rs571528578
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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 RCV002122245 SCV002399761 likely benign not provided 2023-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002427635 SCV002740986 likely benign Maturity onset diabetes mellitus in young 2020-11-02 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002486876 SCV002796028 likely benign Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 2021-10-20 criteria provided, single submitter clinical testing

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