ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4578-8G>C

dbSNP: rs375758486
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000982519 SCV001130535 likely benign Neurofibromatosis, type 1 2023-08-06 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV000982519 SCV001478972 uncertain significance Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing

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