ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.80G>A (p.Arg27Gln)

gnomAD frequency: 0.00135  dbSNP: rs142507451
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535568 SCV000656044 benign Dyskeratosis congenita, autosomal dominant 6 2024-01-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001726242 SCV002064772 likely benign not specified 2018-05-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000535568 SCV002524369 benign Dyskeratosis congenita, autosomal dominant 6 2021-12-05 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV001726242 SCV002551733 benign not specified 2023-08-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001702680 SCV004139988 benign not provided 2023-08-01 criteria provided, single submitter clinical testing ACD: BP4, BS1, BS2
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702680 SCV001930919 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001726242 SCV001965826 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001702680 SCV002036396 likely benign not provided no assertion criteria provided clinical testing

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