ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Athena Diagnostics Inc and "likely benign" from Eurofins NTD LLC (GA)

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: 18
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HGVS dbSNP gnomAD frequency
UGT1A1*6 rs4148323 0.00891
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027 0.00249
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser) rs150236371 0.00231
NM_032119.4(ADGRV1):c.3151G>T (p.Asp1051Tyr) rs145556097 0.00195
NM_032119.4(ADGRV1):c.1522A>C (p.Ile508Leu) rs61744480 0.00177
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502 0.00150
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640 0.00134
NM_017882.3(CLN6):c.53C>T (p.Ala18Val) rs547125345 0.00120
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr) rs141867897 0.00113
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala) rs77853132 0.00011
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys) rs200276242 0.00007
NM_002968.3(SALL1):c.2825C>A (p.Pro942His) rs751069468 0.00001
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup) rs760628050
NM_002693.3(POLG):c.158_166del (p.Gln53_Gln55del) rs769735492
NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg) rs150376715
Single allele

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