ClinVar Miner

Submissions for variant NM_004068.4(AP2M1):c.75-4T>C

gnomAD frequency: 0.40359  dbSNP: rs2231216
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002152879 SCV002417704 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002260412 SCV002539335 benign Intellectual developmental disorder 60 with seizures 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003978765 SCV004795845 benign AP2M1-related disorder 2019-10-30 criteria provided, single submitter 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).
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004594622 SCV005087598 benign not specified 2024-07-15 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 54% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 50. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV002152879 SCV005302615 benign not provided criteria provided, single submitter not provided

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