ClinVar Miner

Submissions for variant NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) (rs28935498)

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Total submissions: 7
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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 RCV000224897 SCV000281127 likely benign not provided 2016-04-19 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000224897 SCV000693339 uncertain significance not provided 2018-05-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720983 SCV000851867 uncertain significance History of neurodevelopmental disorder 2015-09-23 criteria provided, single submitter clinical testing Insufficient or conflicting evidence;In silico models in agreement (benign)
Invitae RCV000224897 SCV001013508 benign not provided 2018-03-29 criteria provided, single submitter clinical testing
OMIM RCV000011575 SCV000031807 pathogenic Syndromic X-linked mental retardation 16 2002-02-01 no assertion criteria provided literature only
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000604954 SCV000734789 likely benign Aarskog syndrome no assertion criteria provided clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252498 SCV001428255 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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