ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3228+1G>T

dbSNP: rs868673401
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666478 SCV000790780 likely pathogenic Autosomal recessive polycystic kidney disease 2017-04-07 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002289952 SCV002579499 pathogenic Polycystic kidney disease 4 2021-11-22 criteria provided, single submitter clinical testing

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