ClinVar Miner

Variants with conflicting interpretations "likely benign" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "uncertain significance" from Blueprint Genetics

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: 8
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln) rs147415774 0.00145
NM_012452.3(TNFRSF13B):c.568G>C (p.Gly190Arg) rs150101848 0.00083
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627 0.00019
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615

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