ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.271A>G (p.Thr91Ala)

gnomAD frequency: 0.00001  dbSNP: rs587778160
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003539790 SCV004268042 likely benign RASopathy 2025-04-07 criteria provided, single submitter clinical testing
ITMI RCV000120466 SCV000084619 not provided not specified 2013-09-19 no classification provided reference population

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