ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.72G>C (p.Val24=) (rs761062232)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000893114 SCV001037030 likely benign not provided 2018-09-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV001026246 SCV001188589 likely benign Hereditary cancer-predisposing syndrome 2019-05-24 criteria provided, single submitter clinical testing In silico models in agreement (benign);Rarity in general population databases (dbsnp, esp, 1000 genomes);Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001428705 SCV001631411 likely benign Neurofibromatosis, type 2 2020-01-17 criteria provided, single submitter clinical testing

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