ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8174-18dup

dbSNP: rs566540835
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179114 SCV000231311 uncertain significance not provided 2014-11-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000227441 SCV000464054 uncertain significance Autosomal recessive polycystic kidney disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000227441 SCV001001082 benign Autosomal recessive polycystic kidney disease 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000179114 SCV002575474 likely benign not provided 2022-03-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV000227441 SCV002077991 benign Autosomal recessive polycystic kidney disease 2017-10-17 no assertion criteria provided clinical testing

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