ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.4074-5T>C

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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 RCV003517035 SCV004319563 likely benign Neuroblastoma, susceptibility to, 3 2023-09-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004634296 SCV005124372 uncertain significance Hereditary cancer-predisposing syndrome 2024-06-07 criteria provided, single submitter clinical testing The c.4074-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 28 in the ALK gene. This nucleotide position is well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this variant remains unclear.

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