ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.2619T>C (p.Arg873=)

gnomAD frequency: 0.00001  dbSNP: rs766212733
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216159 SCV000276550 likely benign Hereditary cancer-predisposing syndrome 2016-03-09 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Labcorp Genetics (formerly Invitae), Labcorp RCV000228947 SCV000284415 likely benign Neurofibromatosis, type 1 2025-01-08 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000600552 SCV000712933 likely benign not specified 2017-01-18 criteria provided, single submitter clinical testing p.Arg873Arg in exon 21 of NF1: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/16512 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs766212733).
GeneDx RCV001537827 SCV000723067 likely benign not provided 2020-01-02 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000216159 SCV002527467 likely benign Hereditary cancer-predisposing syndrome 2020-07-14 criteria provided, single submitter curation
Genome-Nilou Lab RCV000228947 SCV002560575 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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