ClinVar Miner

Submissions for variant NM_001082486.2(ACD):c.99+18G>A

gnomAD frequency: 0.00036  dbSNP: rs369046068
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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 RCV002076879 SCV002325025 benign Dyskeratosis congenita, autosomal dominant 6 2023-12-22 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003493909 SCV004242718 likely benign not specified 2024-02-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004710397 SCV005251471 benign not provided criteria provided, single submitter not provided

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