ClinVar Miner

Submissions for variant NC_000016.10:g.67660703A>G

gnomAD frequency: 0.03001  dbSNP: rs72547496
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001522656 SCV001732242 benign Dyskeratosis congenita, autosomal dominant 6 2023-12-11 criteria provided, single submitter clinical testing
GeneDx RCV001751781 SCV002007642 likely benign not provided 2019-04-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15744531)
Breakthrough Genomics, Breakthrough Genomics RCV001751781 SCV005218587 likely benign not provided criteria provided, single submitter not provided

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