ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.1371G>T (p.Pro457=)

gnomAD frequency: 0.03535  dbSNP: rs14920
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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 RCV000546555 SCV000656042 benign Dyskeratosis congenita, autosomal dominant 6 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001536250 SCV001752979 benign not provided 2019-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000546555 SCV002524358 benign Dyskeratosis congenita, autosomal dominant 6 2021-12-05 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268167 SCV002551703 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001536250 SCV005249196 benign not provided criteria provided, single submitter not provided

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