ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1786-4C>G

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002404155 SCV002711384 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2020-01-30 criteria provided, single submitter clinical testing The c.1786-4C>G intronic variant results from a C to G substitution 4 nucleotides upstream from coding exon 16 in the LZTR1 gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003100838 SCV003027689 likely benign not provided 2023-12-15 criteria provided, single submitter clinical testing

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