ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.494-20C>T

gnomAD frequency: 0.00465  dbSNP: rs59443695
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001518741 SCV001727496 benign Dyskeratosis congenita, autosomal dominant 6 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001595089 SCV001829460 benign not provided 2019-06-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001518741 SCV002524366 benign Dyskeratosis congenita, autosomal dominant 6 2021-12-05 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268506 SCV002551721 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001595089 SCV005251438 benign not provided criteria provided, single submitter not provided

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