ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.534A>G (p.Thr178=)

dbSNP: rs1346848498
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813617 SCV002060503 likely benign Noonan syndrome and Noonan-related syndrome 2017-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003539411 SCV004246235 likely benign RASopathy 2024-01-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003987910 SCV004803399 likely benign not specified 2024-01-15 criteria provided, single submitter clinical testing

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