ClinVar Miner

Variants with conflicting interpretations between Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital and GeneDx

Minimum review status of the submission from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital: Collection method of the submission from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
170 35 0 3 8 0 5 16

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic likely benign benign
pathogenic 0 1 0 0
likely pathogenic 2 0 0 0
uncertain significance 4 1 7 1

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_000071.2(CBS):c.1280C>T (p.Pro427Leu) rs863223434
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del) rs755655903
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591
NM_001039523.3(CHRNA1):c.1396G>A (p.Gly466Arg) rs768407867
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met) rs199793620
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_002693.2(POLG):c.2419C>T (p.Arg807Cys) rs769827124
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_018328.4(MBD5):c.2979G>C (p.Gln993His) rs148321416
NM_018328.4(MBD5):c.599G>A (p.Arg200Gln) rs149278000
NM_170707.4(LMNA):c.3G>C (p.Met1Ile) rs794728598

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