ClinVar Miner

Submissions for variant NM_001177693.2(ARHGEF28):c.3753C>T (p.Asp1251=)

gnomAD frequency: 0.01926  dbSNP: rs146562116
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248698 SCV000306405 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001579817 SCV001850508 benign not provided 2021-06-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001579817 SCV005302118 benign not provided criteria provided, single submitter not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579817 SCV001808606 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000248698 SCV001963753 benign not specified no assertion criteria provided clinical testing

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