ClinVar Miner

Variants with conflicting interpretations "likely benign" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "pathogenic" from any submitter

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 10
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HGVS dbSNP
NM_000040.3(APOC3):c.55C>T (p.Arg19Ter) rs76353203
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs1800103
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_001110792.2(MECP2):c.1169C>T (p.Ala390Val) rs201314910
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098

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