ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.2326-3T>G (rs876658946)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000213483 SCV000274823 uncertain significance Hereditary cancer-predisposing syndrome 2015-03-26 criteria provided, single submitter clinical testing Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation;Rarity in general population databases (dbsnp, esp, 1000 genomes);In silico models in agreement (deleterious) and/or completely conserved position in appropriate species;Insufficient or conflicting evidence
Medical Genomics Laboratory,Department of Genetics UAB RCV001007754 SCV001167436 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing
Division of Human Genetics,Medical University Innsbruck RCV001007754 SCV001250662 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing

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