ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Claritas Genomics and "likely pathogenic" from any submitter

Minimum review status of the submission from Claritas Genomics: Collection method of the submission from Claritas Genomics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_000124.4(ERCC6):c.2599-26A>G rs4253196 0.00006
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter) rs121917901 0.00005
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527 0.00001
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu) rs28935473

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