ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.493+7T>C

gnomAD frequency: 0.00008  dbSNP: rs199626332
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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 RCV000944739 SCV001090718 likely benign Dyskeratosis congenita, autosomal dominant 6 2025-01-12 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268374 SCV002551722 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003456459 SCV004184576 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing ACD: PM2, BP4

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