ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu)

gnomAD frequency: 0.00150  dbSNP: rs146205997
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514936 SCV000610822 likely benign not provided 2017-06-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514936 SCV000840800 benign not provided 2018-02-20 criteria provided, single submitter clinical testing
Invitae RCV001078825 SCV001018787 likely benign KBG syndrome 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000514936 SCV001942872 benign not provided 2020-04-06 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001078825 SCV002525205 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002341201 SCV002641896 likely benign Inborn genetic diseases 2017-09-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV001078825 SCV002803712 likely benign KBG syndrome 2021-08-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000514936 SCV004143470 benign not provided 2023-03-01 criteria provided, single submitter clinical testing ANKRD11: BP4, BS1, BS2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000514936 SCV001956404 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000514936 SCV001966376 likely benign not provided no assertion criteria provided clinical testing

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