ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5365G>C (p.Val1789Leu)

dbSNP: rs1288521396
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666210 SCV000790465 uncertain significance Autosomal recessive polycystic kidney disease 2017-03-21 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493088 SCV002783366 uncertain significance Polycystic kidney disease 4 2022-02-23 criteria provided, single submitter clinical testing

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