ClinVar Miner

Variants with conflicting interpretations "pathogenic" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "likely pathogenic" from Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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: 13
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HGVS dbSNP
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) rs754012367
NM_000520.6(HEXA):c.1073+1G>A rs76173977
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_005633.3(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_015560.2(OPA1):c.869G>A (p.Arg290Gln) rs121908375
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_213599.2(ANO5):c.41-1G>A rs398124625
Single allele

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