ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.624G>T (p.Ala208=)

gnomAD frequency: 0.00003  dbSNP: rs370184932
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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 RCV000167031 SCV000217854 likely benign Hereditary cancer-predisposing syndrome 2014-12-05 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000908872 SCV001053656 likely benign Neurofibromatosis, type 1 2024-12-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000908872 SCV002561212 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing

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