ClinVar Miner

Submissions for variant NM_020774.4(MIB1):c.2580G>A (p.Arg860=)

gnomAD frequency: 0.00001  dbSNP: rs762343314
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001722585 SCV000715669 likely benign not provided 2020-09-25 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV000610191 SCV001920568 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001722585 SCV001967394 likely benign not provided no assertion criteria provided clinical testing

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