ClinVar Miner

Submissions for variant NM_005465.7(AKT3):c.*5155_*5159dup

dbSNP: rs577416381
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000325610 SCV000356843 uncertain significance Bardet-Biedl syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000384788 SCV000356844 uncertain significance Renal dysplasia and retinal aplasia 2016-06-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003221892 SCV003916576 benign not provided 2023-01-01 criteria provided, single submitter clinical testing AKT3: BS1, BS2

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