ClinVar Miner

Variants with conflicting interpretations "likely benign" from Eurofins NTD LLC (GA) and "benign" from Illumina Laboratory Services, Illumina

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: 15
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HGVS dbSNP gnomAD frequency
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) rs148076109 0.00295
NM_002693.3(POLG):c.1174C>G (p.Leu392Val) rs145289229 0.00194
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_020975.6(RET):c.654G>A (p.Pro218=) rs137928436 0.00138
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260 0.00121
NM_001844.5(COL2A1):c.709-8G>T rs200757693 0.00105
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139 0.00092
NM_001844.5(COL2A1):c.2095-4G>A rs111570218 0.00089
NM_001844.5(COL2A1):c.507C>T (p.Pro169=) rs143851987 0.00086
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756 0.00069
NM_001844.5(COL2A1):c.3384C>T (p.Gly1128=) rs145884117 0.00067
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344 0.00039
NM_000214.3(JAG1):c.1806C>T (p.His602=) rs764290237 0.00015
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138 0.00013
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu) rs201785359 0.00006

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