ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.6858+10G>A (rs767166725)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198810 SCV000253225 likely benign not provided 2019-03-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000221143 SCV000272221 uncertain significance not specified 2015-12-03 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The c.6921+10G>A in NF1 has not been previously reported in individuals with a RASopathy. It has be en identified in 3/66498 European chromosomes and 1/8646 South Asian chromosomes by the Exome Aggregation Consortium (ExAC,; dbSN P rs767166725). Computational tools DO NOT suggest an impact to splicing. Howeve r, this information is not predictive enough to rule out pathogenicity. In summa ry, while the clinical significance of the c.6921+10G>A variant is uncertain, th ese data suggest that it is more likely to be benign.

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