ClinVar Miner

Submissions for variant NM_004463.3(FGD1):c.527dup (p.Leu177fs) (rs756586058)

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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 RCV000790801 SCV000229043 pathogenic not provided 2014-06-05 criteria provided, single submitter clinical testing
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000177205 SCV000583576 likely pathogenic Aarskog syndrome 2017-06-01 criteria provided, single submitter research
Center for Human Genetics, Inc,Center for Human Genetics, Inc RCV000177205 SCV000781476 pathogenic Aarskog syndrome 2016-11-01 criteria provided, single submitter clinical testing
OMIM RCV000177205 SCV000031808 pathogenic Aarskog syndrome 2004-01-01 no assertion criteria provided literature only

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