ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.978A>G (p.Lys326=)

dbSNP: rs1555610891
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575775 SCV000663080 likely benign Hereditary cancer-predisposing syndrome 2016-01-28 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Labcorp Genetics (formerly Invitae), Labcorp RCV000791791 SCV000931054 likely benign Neurofibromatosis, type 1 2024-06-18 criteria provided, single submitter clinical testing

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