ClinVar Miner

Variants with conflicting interpretations "benign" from Athena Diagnostics Inc and "uncertain significance" from Invitae

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: 14
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HGVS dbSNP gnomAD frequency
NM_178012.5(TUBB2B):c.703G>A (p.Gly235Arg) rs587784500 0.00507
NM_006796.3(AFG3L2):c.98A>C (p.Gln33Pro) rs777868371 0.00211
NM_173500.4(TTBK2):c.1949C>T (p.Ala650Val) rs369045579 0.00028
NM_198994.3(TGM6):c.304G>A (p.Ala102Thr) rs150088385 0.00021
NM_000435.3(NOTCH3):c.487C>T (p.Arg163Trp) rs367707092 0.00006
NM_006946.4(SPTBN2):c.3059G>A (p.Arg1020Gln) rs758312194 0.00006
NM_001378452.1(ITPR1):c.1554+3C>T rs781141738 0.00004
NM_001378452.1(ITPR1):c.5386G>A (p.Gly1796Ser) rs760608076 0.00004
NM_001961.4(EEF2):c.1347-8T>G rs376174565 0.00001
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala) rs192902098
NM_000399.5(EGR2):c.910GCC[7] (p.Ala309dup) rs753747037
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
NM_004977.3(KCNC3):c.1760C>T (p.Pro587Leu) rs554197864
NM_198994.3(TGM6):c.245G>T (p.Gly82Val) rs144094215

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