ClinVar Miner

Submissions for variant NM_024079.5(ALG8):c.1038+1G>T

gnomAD frequency: 0.00016  dbSNP: rs202112771
Minimum review status: Collection method:
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Total submissions: 2
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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 RCV000584825 SCV005627720 uncertain significance Polycystic liver disease 3 with or without kidney cysts 2023-09-19 criteria provided, single submitter clinical testing
OMIM RCV000584825 SCV000692486 pathogenic Polycystic liver disease 3 with or without kidney cysts 2018-02-21 flagged submission literature only

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