ClinVar Miner

Submissions for variant NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=)

gnomAD frequency: 0.00007  dbSNP: rs781940286
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173213 SCV000224308 uncertain significance not provided 2015-05-27 criteria provided, single submitter clinical testing
Invitae RCV001078777 SCV000649590 benign Intellectual disability, X-linked 1 2024-01-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000173213 SCV001156061 likely benign not provided 2023-05-01 criteria provided, single submitter clinical testing IQSEC2: BP4, BP7, BS2
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino RCV002226691 SCV002505685 likely pathogenic Tip-toe gait 2022-01-19 no assertion criteria provided clinical testing

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