ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.1207-10C>T

gnomAD frequency: 0.00536  dbSNP: rs67185288
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000531824 SCV000656041 benign Dyskeratosis congenita, autosomal dominant 6 2024-01-20 criteria provided, single submitter clinical testing
GeneDx RCV001675933 SCV001893006 benign not provided 2020-06-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000531824 SCV002524363 benign Dyskeratosis congenita, autosomal dominant 6 2021-12-05 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493644 SCV004242709 benign not specified 2024-02-06 criteria provided, single submitter clinical testing

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