ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser)

gnomAD frequency: 0.00377  dbSNP: rs145906515
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002316719 SCV000850380 benign Inborn genetic diseases 2018-07-27 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001085144 SCV001005779 benign KBG syndrome 2024-01-26 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000864899 SCV001143023 benign not provided 2018-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000864899 SCV001857767 benign not provided 2018-12-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 27055092)
Genetic Services Laboratory, University of Chicago RCV001816784 SCV002066845 benign not specified 2019-10-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001085144 SCV002525197 benign KBG syndrome 2021-12-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000864899 SCV002545831 likely benign not provided 2024-11-01 criteria provided, single submitter clinical testing ANKRD11: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000864899 SCV005253170 benign not provided criteria provided, single submitter not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000864899 SCV001800678 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000864899 SCV001964559 likely benign not provided no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003965490 SCV004786665 benign ANKRD11-related disorder 2022-12-29 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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