ClinVar Miner

Submissions for variant NM_005188.4(CBL):c.1872G>T (p.Leu624Phe)

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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 RCV003654873 SCV004551550 likely benign RASopathy 2023-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV004614517 SCV005098194 uncertain significance Cardiovascular phenotype 2024-03-19 criteria provided, single submitter clinical testing The c.1872G>T (p.L624F) alteration is located in exon 11 (coding exon 11) of the CBL gene. This alteration results from a G to T substitution at nucleotide position 1872, causing the leucine (L) at amino acid position 624 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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