ClinVar Miner

Submissions for variant NM_001346754.2(PIGW):c.617_620del (p.Val206fs) (rs753385776)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000427391 SCV000511695 likely pathogenic not provided 2016-12-02 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000427391 SCV001151273 likely pathogenic not provided 2020-11-01 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV001170042 SCV001251819 uncertain significance Hyperphosphatasia with mental retardation syndrome 5 2020-05-03 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV001270043 SCV001448771 likely pathogenic Global developmental delay; Abnormality of skeletal morphology; Cleft palate 2018-12-03 criteria provided, single submitter clinical testing

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