ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.1512G>A (p.Thr504=)

gnomAD frequency: 0.00395  dbSNP: rs116550473
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193704 SCV000246457 benign not specified 2015-09-30 criteria provided, single submitter clinical testing
GeneDx RCV000874685 SCV000512098 likely benign not provided 2020-12-16 criteria provided, single submitter clinical testing
Invitae RCV000874685 SCV001016892 benign not provided 2024-01-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000874685 SCV004154667 benign not provided 2023-01-01 criteria provided, single submitter clinical testing ARFGEF2: BP4, BP7, BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003947592 SCV004767059 benign ARFGEF2-related condition 2019-07-18 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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