ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1069G>A (p.Glu357Lys)

dbSNP: rs2147072954
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV001353265 SCV001548481 uncertain significance Neurofibromatosis, type 1 2020-01-01 no assertion criteria provided clinical testing

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