ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.7623G>A (p.Arg2541=)

gnomAD frequency: 0.00001  dbSNP: rs876660737
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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 RCV000215852 SCV000278399 likely benign Hereditary cancer-predisposing syndrome 2015-09-16 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Labcorp Genetics (formerly Invitae), Labcorp RCV000468081 SCV000554912 likely benign Neurofibromatosis, type 1 2024-11-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000468081 SCV002561311 likely benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579778 SCV001808483 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001579778 SCV001928250 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727641 SCV001971629 benign not specified no assertion criteria provided clinical testing

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