ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.413+3A>G

gnomAD frequency: 0.12302  dbSNP: rs8058187
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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 RCV001516430 SCV001724706 benign Dyskeratosis congenita, autosomal dominant 6 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001655760 SCV001868963 benign not provided 2019-02-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001516430 SCV002524367 benign Dyskeratosis congenita, autosomal dominant 6 2021-12-05 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268500 SCV002551726 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001655760 SCV005251449 benign not provided criteria provided, single submitter not provided

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