ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.2940C>T (p.Thr980=)

gnomAD frequency: 0.00031  dbSNP: rs41296217
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501153 SCV000593301 likely benign not specified 2017-04-24 criteria provided, single submitter clinical testing
GeneDx RCV001692145 SCV001912867 likely benign not provided 2021-01-30 criteria provided, single submitter clinical testing
Invitae RCV001692145 SCV003789983 likely benign not provided 2024-01-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001692145 SCV004154669 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing ARFGEF2: BP4, BP7

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