ClinVar Miner

Submissions for variant NM_001177693.2(ARHGEF28):c.4622C>G (p.Ala1541Gly)

gnomAD frequency: 0.03856  dbSNP: rs78992879
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000250800 SCV000306408 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001534922 SCV001751891 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001534922 SCV005302132 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000250800 SCV001809520 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000250800 SCV001919191 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001534922 SCV001965366 likely benign not provided no assertion criteria provided clinical testing

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