ClinVar Miner

Variants in gene combination RELN, SLC26A5 with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
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
561 37 0 15 22 0 0 35

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.

uncertain significance likely benign benign
uncertain significance 0 20 4
likely benign 20 0 15
benign 4 15 0

All variants with conflicting interpretations #

Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.8843+7G>C rs2711885 0.98938
NM_005045.4(RELN):c.10074A>G (p.Ala3358=) rs1062831 0.17444
NM_005045.4(RELN):c.8136A>G (p.Leu2712=) rs3808039 0.04529
NM_005045.4(RELN):c.8120-21A>C rs73714429 0.04407
NM_005045.4(RELN):c.8508C>T (p.Phe2836=) rs2229862 0.03751
NM_005045.4(RELN):c.9903C>T (p.Tyr3301=) rs73714404 0.01371
NM_005045.4(RELN):c.9370-30C>G rs79193208 0.01201
NM_005045.4(RELN):c.8811G>A (p.Ala2937=) rs144728023 0.00226
NM_005045.4(RELN):c.9321C>T (p.Leu3107=) rs150387973 0.00218
NM_005045.4(RELN):c.8120-9T>C rs74952625 0.00190
NM_005045.4(RELN):c.8944G>A (p.Asp2982Asn) rs148509350 0.00071
NM_005045.4(RELN):c.9825C>T (p.Ser3275=) rs149713137 0.00033
NM_005045.4(RELN):c.8843+3A>C rs200124755 0.00029
NM_005045.4(RELN):c.8798C>T (p.Thr2933Ile) rs201656873 0.00019
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile) rs115035120 0.00018
NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys) rs114501042 0.00018
NM_005045.4(RELN):c.8212C>T (p.Arg2738Trp) rs202166176 0.00016
NM_005045.4(RELN):c.8844-20T>C rs142002220 0.00016
NM_005045.4(RELN):c.8795C>A (p.Ser2932Tyr) rs139225791 0.00014
NM_005045.4(RELN):c.9329G>A (p.Arg3110Gln) rs368572382 0.00014
NM_005045.4(RELN):c.8634A>G (p.Ser2878=) rs377429197 0.00013
NM_005045.4(RELN):c.10322G>A (p.Arg3441Gln) rs116463039 0.00011
NM_005045.4(RELN):c.8667+9_8667+13del rs755797350 0.00008
NM_005045.4(RELN):c.10310T>C (p.Met3437Thr) rs377638585 0.00007
NM_005045.4(RELN):c.10357C>T (p.Arg3453Ter) rs139326865 0.00006
NM_005045.4(RELN):c.8624C>T (p.Pro2875Leu) rs761738403 0.00003
NM_005045.4(RELN):c.10025C>T (p.Thr3342Met) rs201703640 0.00002
NM_005045.4(RELN):c.8181T>G (p.Asp2727Glu) rs778861276 0.00002
NM_005045.4(RELN):c.8490-3T>C rs373564931 0.00001
NM_005045.4(RELN):c.9016A>C (p.Ile3006Leu) rs755660948 0.00001
NM_005045.4(RELN):c.9281A>G (p.Tyr3094Cys) rs750252271 0.00001
NM_005045.4(RELN):c.10251A>C (p.Gln3417His)
NM_005045.4(RELN):c.8213G>A (p.Arg2738Gln) rs141115137
NM_005045.4(RELN):c.8668-32_8668-29del rs745709647
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del) rs762015967

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