ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.889-21C>A

dbSNP: rs753797445
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genomics Laboratory, Department of Genetics UAB RCV001007711 SCV001167383 pathogenic Neurofibromatosis, type 1 2020-01-20 criteria provided, single submitter clinical testing
GeneDx RCV003320780 SCV004025579 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing Identified in a child referred for genetic testing for NF1 with multiple cafe au lait macules and no other features of NF1 (Wimmer et al., 2020; Koczkowska et al., 2023); Splicing studies demonstrate that the variant results in partial/low-level skipping of the adjacent exon 9 (Wimmer et al., 2020; Koczkowska et al., 2023); In silico analysis supports a deleterious effect on splicing; Also known as IVS6-21 C>A; This variant is associated with the following publications: (PMID: 37186028, 32126153)
Baylor Genetics RCV003467579 SCV004190750 uncertain significance Juvenile myelomonocytic leukemia 2023-04-07 criteria provided, single submitter clinical testing

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