ClinVar Miner

Submissions for variant NM_004447.6(EPS8):c.2226-3del

dbSNP: rs35885542
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825159 SCV000966430 likely benign not specified 2018-05-07 criteria provided, single submitter clinical testing c.2226-3delT in intron 19 of EPS8: This variant is likely benign because it is n ot predicted to impact splicing. Furthermore, this variant is a deletion of 1 of 13 consecutive Ts in the intron, which is a repetivie region without known fu nction. ACMG/AMP Criteria applied: BP3, BP4.
Labcorp Genetics (formerly Invitae), Labcorp RCV000950215 SCV001096503 benign not provided 2017-06-14 criteria provided, single submitter clinical testing

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