ClinVar Miner

Submissions for variant NM_003001.5(SDHC):c.241+3A>G

dbSNP: rs1413662099
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000533604 SCV000641431 likely benign Gastrointestinal stromal tumor; Paragangliomas 3 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV002448700 SCV002732800 uncertain significance Hereditary cancer-predisposing syndrome 2023-09-07 criteria provided, single submitter clinical testing The c.241+3A>G intronic variant results from an A to G substitution 3 nucleotides after coding exon 4 in the SDHC 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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