ClinVar Miner

Submissions for variant NM_024079.5(ALG8):c.828_829del (p.Cys277fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV003330185 SCV004037201 likely pathogenic Polycystic liver disease 3 with or without kidney cysts 2022-04-12 flagged submission clinical testing

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