ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Women's Health and Genetics/Laboratory Corporation of America, LabCorp and "likely pathogenic" from Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Minimum review status of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp: Collection method of the submission from Women's Health and Genetics/Laboratory Corporation of America, LabCorp:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 22
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HGVS dbSNP gnomAD frequency
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter) rs386833993 0.00005
NM_000481.4(AMT):c.887G>A (p.Arg296His) rs386833690 0.00003
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer) rs386833992 0.00002
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter) rs386833521 0.00001
NM_000170.3(GLDC):c.2891dup (p.Tyr964Ter) rs386833572 0.00001
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter) rs386833709 0.00001
NM_004646.4(NPHS1):c.313G>A (p.Asp105Asn) rs386833932 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs) rs386834055 0.00001
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter) rs386834086 0.00001
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter) rs386834110 0.00001
NM_000111.3(SLC26A3):c.386C>T (p.Pro129Leu) rs386833480
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs) rs386833692
NM_001042432.2(CLN3):c.1268C>A (p.Ser423Ter) rs386833706
NM_001079866.2(BCS1L):c.320+1G>T rs386833856
NM_003982.4(SLC7A7):c.149T>A (p.Met50Lys) rs386833811
NM_004646.4(NPHS1):c.1275del (p.Lys426fs) rs386833876
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs) rs386833878
NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter) rs386833926
NM_018941.4(CLN8):c.562_563del (p.Leu188fs) rs386834132
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter) rs386834057
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs) rs386834069

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