ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.8174-18dup (rs566540835)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179114 SCV000231311 uncertain significance not provided 2014-11-14 criteria provided, single submitter clinical testing
Invitae RCV000227441 SCV000291341 benign Autosomal recessive polycystic kidney disease 2015-12-16 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000227441 SCV000464054 uncertain significance Autosomal recessive polycystic kidney disease 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000179114 SCV001001082 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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