ClinVar Miner

Submissions for variant NM_024079.5(ALG8):c.544C>T (p.Gln182Ter)

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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 RCV003484554 SCV004229111 likely pathogenic Polycystic liver disease 3 with or without kidney cysts 2023-08-14 criteria provided, single submitter clinical testing

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