ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.5387del (p.Glu1796fs)

dbSNP: rs2069379168
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001290800 SCV001478956 likely pathogenic Neurofibromatosis, type 1 2020-10-26 criteria provided, single submitter clinical testing

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