ClinVar Miner

Submissions for variant NM_018648.4(NOP10):c.55-10C>A

gnomAD frequency: 0.00295  dbSNP: rs200017156
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000526147 SCV000641926 benign Dyskeratosis congenita, autosomal recessive 1 2025-01-11 criteria provided, single submitter clinical testing
GeneDx RCV001755842 SCV002006232 likely benign not provided 2021-05-18 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002257809 SCV002527304 likely benign Hereditary cancer-predisposing syndrome 2020-12-15 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV001755842 SCV004041920 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing NOP10: BP4, BS2

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