ClinVar Miner

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

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Total submissions: 6
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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

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