ClinVar Miner

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

gnomAD frequency: 0.00210  dbSNP: rs199823175
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173372 SCV000224476 likely benign not specified 2015-03-31 criteria provided, single submitter clinical testing
GeneDx RCV000713302 SCV000490797 likely benign not provided 2019-02-11 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18791198, 26080100, 20157829, 19346217)
Athena Diagnostics RCV000713302 SCV000843892 benign not provided 2018-07-12 criteria provided, single submitter clinical testing
Invitae RCV000023330 SCV001015078 benign Holoprosencephaly 2 2023-12-28 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713302 SCV004011150 benign not provided 2023-04-01 criteria provided, single submitter clinical testing SIX3: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003934849 SCV004749337 likely benign SIX3-related disorder 2023-07-06 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Ambry Genetics RCV004018667 SCV004949318 likely benign Inborn genetic diseases 2021-08-09 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
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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