ClinVar Miner

Submissions for variant NM_001080449.3(DNA2):c.1058-6del

dbSNP: rs201474338
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000614315 SCV000730288 benign not specified 2017-03-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000676512 SCV001012280 benign not provided 2025-01-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000676512 SCV000802297 likely benign not provided 2016-03-16 no assertion criteria provided clinical testing

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