ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.205-16A>G

dbSNP: rs2143645089
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002094620 SCV002375847 likely benign Neurofibromatosis, type 1 2024-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004558847 SCV005047583 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2016-11-02 criteria provided, single submitter clinical testing The c.205-16A>G intronic alteration consists of a A to G substitution 16 nucleotides before coding exon 3 in the NF1 gene. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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