ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Athena Diagnostics Inc and "likely pathogenic" from Ambry Genetics

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: 4
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HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.194C>T (p.Ala65Val) rs730881169
NM_000371.4(TTR):c.220G>C (p.Glu74Gln) rs1555631393
NM_000371.4(TTR):c.326A>T (p.Glu109Val) rs2073511444
NM_001267550.2(TTN):c.98171_98174dup (p.Ile32726fs) rs1275153634

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