ClinVar Miner

Variants with conflicting interpretations "benign" from Athena Diagnostics Inc and "likely benign" from Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 6
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HGVS dbSNP gnomAD frequency
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) rs140990288 0.00518
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124 0.00134
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
m.3308T>C rs28358582

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