ClinVar Miner

Submissions for variant NM_003000.3(SDHB):c.424-5C>G

dbSNP: rs1553177690
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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 RCV000539114 SCV000630706 likely benign Gastrointestinal stromal tumor; Paragangliomas 4; Pheochromocytoma 2023-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV003302796 SCV004000804 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-22 criteria provided, single submitter clinical testing The c.424-5C>G intronic variant results from a C to G substitution 5 nucleotides upstream from coding exon 5 in the SDHB gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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