ClinVar Miner

Variants with conflicting interpretations "pathogenic" from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics and "risk factor" 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: 14
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HGVS dbSNP
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_024675.3(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132
NM_024675.4(PALB2):c.172_175del (p.Gln60fs) rs180177143

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