ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.4844C>T (p.Thr1615Met)

dbSNP: rs147529495
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000734398 SCV000862537 likely benign not specified 2018-07-19 criteria provided, single submitter clinical testing
Invitae RCV000866712 SCV001007844 benign Autosomal recessive polycystic kidney disease 2024-01-28 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV001731915 SCV001984627 likely benign Polycystic kidney disease 4 2019-12-26 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000734398 SCV002033876 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001796201 SCV002035383 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000866712 SCV002078099 likely benign Autosomal recessive polycystic kidney disease 2017-05-10 no assertion criteria provided clinical testing

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