ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) (rs137852946)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153715 SCV000203273 uncertain significance not provided 2014-03-11 criteria provided, single submitter clinical testing
Counsyl RCV000004327 SCV000800567 uncertain significance Autosomal recessive polycystic kidney disease 2017-08-02 criteria provided, single submitter clinical testing
Baylor Genetics RCV000004327 SCV001163045 likely pathogenic Autosomal recessive polycystic kidney disease criteria provided, single submitter clinical testing
Cavalleri Lab, Royal College of Surgeons in Ireland RCV000004327 SCV001251234 likely pathogenic Autosomal recessive polycystic kidney disease 2020-02-05 criteria provided, single submitter research PS1, PM3, PP2, PP3, PP4
OMIM RCV000004327 SCV000024498 pathogenic Autosomal recessive polycystic kidney disease 2002-03-01 no assertion criteria provided literature only

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