ClinVar Miner

Submissions for variant NM_004304.5(ALK):c.3939-5C>T

dbSNP: rs1573084845
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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 RCV000877092 SCV001019767 likely benign Neuroblastoma, susceptibility to, 3 2023-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV001021474 SCV001183096 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-15 criteria provided, single submitter clinical testing The c.3939-5C>T intronic variant results from a C to T substitution 5 nucleotides upstream from coding exon 27 in the ALK gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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