ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.99+20C>T

gnomAD frequency: 0.00002  dbSNP: rs751731124
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002146085 SCV002455090 likely benign Dyskeratosis congenita, autosomal dominant 6 2023-12-27 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321910 SCV004026620 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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