ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.5005+17C>T

dbSNP: rs200688912
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581158 SCV000687596 likely benign Hereditary cancer-predisposing syndrome 2015-11-02 criteria provided, single submitter clinical testing
GeneDx RCV001712592 SCV001943130 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001712592 SCV002049535 likely benign not provided 2021-09-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002060609 SCV002495608 likely benign Ataxia-telangiectasia syndrome 2024-01-19 criteria provided, single submitter clinical testing

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