ClinVar Miner

Submissions for variant NM_001715.3(BLK):c.952G>A (p.Gly318Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues RCV003327345 SCV004034144 uncertain significance Maturity-onset diabetes of the young type 11 2023-07-13 criteria provided, single submitter clinical testing

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