ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.1925G>A (p.Ser642Asn)

dbSNP: rs571045498
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001813650 SCV002060751 uncertain significance Noonan syndrome and Noonan-related syndrome 2020-10-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002542451 SCV003467932 likely benign RASopathy 2023-08-04 criteria provided, single submitter clinical testing

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