ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.4203C>T (p.Ser1401=)

dbSNP: rs991237227
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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 RCV002319322 SCV001183618 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2018-09-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Invitae RCV001498944 SCV001703699 likely benign Neurofibromatosis, type 1 2023-12-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001498944 SCV002560717 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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