ClinVar Miner

Variants in gene SLC7A7 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
253 27 3 13 11 0 2 28

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 uncertain significance likely benign benign
pathogenic 0 11 1 0 0
likely pathogenic 11 3 1 0 0
uncertain significance 1 1 0 10 1
likely benign 0 0 10 0 2
benign 0 0 1 2 0

All variants with conflicting interpretations #

Total variants: 28
Download table as spreadsheet
NM_001126105.2(SLC7A7):c.1005_1008del (p.Phe335Leufs) rs386833794
NM_001126105.2(SLC7A7):c.1013G>A (p.Gly338Asp) rs386833795
NM_001126105.2(SLC7A7):c.1147_1151dup (p.Tyr384Ter) rs386833798
NM_001126105.2(SLC7A7):c.1185_1188del (p.Ser396fs) rs386833800
NM_001126105.2(SLC7A7):c.1387del (p.Val463fs) rs386833806
NM_001126105.2(SLC7A7):c.1402C>T (p.Arg468Ter) rs386833807
NM_001126105.2(SLC7A7):c.1460del (p.Cys487fs) rs386833809
NM_001126105.2(SLC7A7):c.149T>A (p.Met50Lys) rs386833811
NM_001126105.2(SLC7A7):c.161G>T (p.Gly54Val) rs121908677
NM_001126105.2(SLC7A7):c.545dup (p.Val183fs) rs386833818
NM_001126105.2(SLC7A7):c.625+1G>A rs386833822
NM_001126105.2(SLC7A7):c.625+1G>C rs386833822
NM_001126105.2(SLC7A7):c.713C>T (p.Ser238Phe) rs386833823
NM_001126105.2(SLC7A7):c.894+1G>T rs386833827
NM_001126106.2(SLC7A7):c.1095+6T>C rs531862402
NM_001126106.2(SLC7A7):c.1119G>A (p.Leu373=) rs1805062
NM_001126106.2(SLC7A7):c.1128A>C (p.Glu376Asp) rs139619724
NM_001126106.2(SLC7A7):c.1380C>G (p.Ile460Met) rs139415285
NM_001126106.2(SLC7A7):c.1494T>C (p.Asp498=) rs765682604
NM_001126106.2(SLC7A7):c.234C>T (p.Val78=) rs139776370
NM_001126106.2(SLC7A7):c.339A>C (p.Gly113=) rs139270936
NM_001126106.2(SLC7A7):c.475C>T (p.Arg159Cys) rs11568437
NM_001126106.2(SLC7A7):c.931A>G (p.Ile311Val) rs539843065
NM_001126106.4(SLC7A7):c.720A>C rs151261004
NM_003982.4(SLC7A7):c.123C>T (p.Asn41=) rs367673752
NM_003982.4(SLC7A7):c.1263G>A (p.Pro421=) rs1043886041
NM_003982.4(SLC7A7):c.1381_1384dup (p.Arg462fs) rs386833805
NM_003982.4(SLC7A7):c.549A>C (p.Val183=) rs146945921

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