ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Athena Diagnostics Inc and "uncertain significance" from CeGaT Center for Human Genetics Tuebingen

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: 3
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) rs746721983 0.00002
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu) rs879254297

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