ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.6600A>C (p.Thr2200=)

gnomAD frequency: 0.00004  dbSNP: rs747576584
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000460679 SCV000554954 likely benign Neurofibromatosis, type 1 2024-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365679 SCV002658962 likely benign Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-08-24 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.
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316581 SCV004016439 likely benign Neurofibromatosis, familial spinal 2023-07-07 criteria provided, single submitter clinical testing

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