ClinVar Miner

Variants with conflicting interpretations "uncertain significance" 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: 12
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HGVS dbSNP
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_213599.2(ANO5):c.155A>G rs143777403
NM_213599.2(ANO5):c.1664G>T (p.Ser555Ile) rs375014127
Single allele

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