ClinVar Miner

Submissions for variant NM_001715.2(BLK):c.-441C>A

gnomAD frequency: 0.00409  dbSNP: rs142686759
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000346097 SCV000471311 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437130 SCV004164353 benign not provided 2023-06-01 criteria provided, single submitter clinical testing BLK: BS1, BS2

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