ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.237A>G (p.Leu79=)

dbSNP: rs752208826
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001084771 SCV000753749 likely benign Neurofibromatosis, type 1 2024-10-30 criteria provided, single submitter clinical testing
GeneDx RCV000681160 SCV000808618 likely benign not provided 2019-05-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319067 SCV001176172 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2019-03-06 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Genome-Nilou Lab RCV001084771 SCV002560604 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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