ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.747+10_747+11insTTAT

dbSNP: rs1473693007
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001474984 SCV001679164 likely benign RASopathy 2023-10-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813556 SCV002060734 uncertain significance Noonan syndrome and Noonan-related syndrome 2019-12-01 criteria provided, single submitter clinical testing

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