ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital and "pathogenic" from any submitter

Minimum review status of the submission from Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital: Collection method of the submission from Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital:
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_001040113.2(MYH11):c.5819del (p.Pro1940fs) rs747392139
NM_001083962.2(TCF4):c.415del (p.Leu139fs) rs587784463
NM_001114753.3(ENG):c.219+5G>C rs1554812252
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg) rs2131889336

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