ClinVar Miner

Submissions for variant NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) (rs794727466)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176895 SCV000228659 uncertain significance not provided 2014-10-13 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000176895 SCV000280668 uncertain significance not provided 2015-11-23 criteria provided, single submitter clinical testing Converted during submission to Uncertain significance.
Blueprint Genetics RCV000176895 SCV000927918 likely pathogenic not provided 2018-09-05 criteria provided, single submitter clinical testing

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