ClinVar Miner

Submissions for variant NM_153332.4(ERI1):c.109-9T>G

gnomAD frequency: 0.00166  dbSNP: rs201166261
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000884696 SCV001028092 likely benign not provided 2018-08-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930626 SCV004742611 benign ERI1-related disorder 2019-03-21 no assertion criteria provided 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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