ClinVar Miner

Variants with conflicting interpretations "likely benign" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "pathogenic" from any submitter

Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP
NM_000070.3(CAPN3):c.1746-20C>G rs201892814
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_001072.4(UGT1A6):c.862-6606C>T rs34526305
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383
NM_014319.5(LEMD3):c.240_263del (p.Pro81_Gly88del) rs756800816
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) rs199839743
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) rs121908108
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
Single allele
UGT1A1*6 rs4148323

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