ClinVar Miner

Submissions for variant NM_001289104.2(PRKCSH):c.683+1G>A

dbSNP: rs2144837651
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV002249140 SCV002517378 likely pathogenic Polycystic liver disease 1 2022-05-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002249140 SCV002789426 likely pathogenic Polycystic liver disease 1 2021-09-03 criteria provided, single submitter clinical testing

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