ClinVar Miner

Variants with conflicting interpretations "benign" from Eurofins NTD LLC (GA) and "uncertain significance" from ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum review status of the submission from Eurofins NTD LLC (GA): Collection method of the submission from Eurofins NTD LLC (GA):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 18
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HGVS dbSNP gnomAD frequency
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940 0.01370
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_001297.5(CNGB1):c.634A>T (p.Thr212Ser) rs192628905 0.00486
NM_001844.5(COL2A1):c.4327G>A (p.Gly1443Ser) rs78690642 0.00459
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_001364905.1(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133 0.00349
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957 0.00280
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494 0.00274
NM_000112.4(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171 0.00214
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_004086.3(COCH):c.1348A>G (p.Ile450Val) rs139503327 0.00083
NM_001849.4(COL6A2):c.1706G>A (p.Arg569Gln) rs147158850 0.00046
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val) rs1800091 0.00034
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236 0.00002
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp) rs104895179

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