ClinVar Miner

Submissions for variant NM_014920.5(CILK1):c.831+5del

dbSNP: rs200780900
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000180654 SCV000233133 benign not specified 2015-01-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513685 SCV000610109 likely benign not provided 2017-07-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000513685 SCV001118441 benign not provided 2023-12-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000513685 SCV001473356 benign not provided 2021-09-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003982932 SCV004800182 benign CILK1-related disorder 2019-05-13 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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