ClinVar Miner

Submissions for variant NM_004447.6(EPS8):c.1434+14del

dbSNP: rs750651749
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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 RCV000825671 SCV000967088 benign not specified 2017-08-23 criteria provided, single submitter clinical testing c.1434+14delT in intron 14 of EPS8: This variant is not expected to have clinica l significance because it has been identified in 1.09% (92/8476) of African chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs758744034).
Labcorp Genetics (formerly Invitae), Labcorp RCV002067413 SCV002405433 benign not provided 2023-04-15 criteria provided, single submitter clinical testing

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