ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.126C>T (p.His42=)

gnomAD frequency: 0.00001  dbSNP: rs995977491
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001495218 SCV001699890 likely benign RASopathy 2021-06-15 criteria provided, single submitter clinical testing

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