ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Athena Diagnostics Inc and "likely pathogenic" from CeGaT Center for Human Genetics Tuebingen

Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_002693.3(POLG):c.3104+1G>A rs138917386 0.00005
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) rs80338792 0.00001
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101 0.00001
NM_000435.3(NOTCH3):c.3226C>T (p.Arg1076Cys) rs1438626607 0.00001
NM_003119.4(SPG7):c.2084T>C (p.Leu695Pro) rs864622094 0.00001
NM_004863.4(SPTLC2):c.547C>T (p.Arg183Trp) rs775437084 0.00001
NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp) rs1012819766 0.00001
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys) rs764148985
NM_000454.5(SOD1):c.115C>G (p.Leu39Val) rs121912432
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_014946.4(SPAST):c.1209_1212del (p.Phe403fs) rs1553317029
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) rs758026634
NM_033380.3(COL4A5):c.2466ACCACCAGG[1] (p.823PPG[1]) rs104886356
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560

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