ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.243-13C>T

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002466167 SCV002760845 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003754993 SCV004509798 likely benign Dyskeratosis congenita, autosomal dominant 6 2023-12-11 criteria provided, single submitter clinical testing

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