ClinVar Miner

Submissions for variant NM_005413.4(SIX3):c.109G>T (p.Gly37Cys) (rs199823175)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173372 SCV000224476 likely benign not specified 2015-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000173372 SCV000490797 likely benign not specified 2017-09-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics Inc RCV000713302 SCV000843892 benign not provided 2018-07-12 criteria provided, single submitter clinical testing
Invitae RCV000023330 SCV001015078 benign Holoprosencephaly 2 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000023330 SCV000044621 pathogenic Holoprosencephaly 2 2010-03-01 no assertion criteria provided literature only
OMIM RCV000023331 SCV000044622 pathogenic SCHIZENCEPHALY 2010-03-01 no assertion criteria provided literature only
Center for Human Genetics,University of Leuven RCV000171135 SCV000188857 pathogenic Solitary median maxillary central incisor syndrome no assertion criteria provided clinical testing

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