ClinVar Miner

Variants in gene SURF1 with conflicting interpretations

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
119 15 0 11 5 0 2 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 uncertain significance likely benign benign
pathogenic 0 5 2 0 0
likely pathogenic 5 0 0 0 0
uncertain significance 2 0 0 3 2
likely benign 0 0 3 0 6
benign 0 0 2 6 0

All variants with conflicting interpretations #

Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_003172.3(SURF1):c.754_755delAG (p.Ser252Hisfs) rs782007828
NM_003172.4(SURF1):c.-11_13del (p.Met1_Ala5del) rs863224229
NM_003172.4(SURF1):c.17C>T (p.Ala6Val) rs587727919
NM_003172.4(SURF1):c.211G>C (p.Val71Leu) rs147993882
NM_003172.4(SURF1):c.280T>C (p.Leu94=) rs28615629
NM_003172.4(SURF1):c.321C>T (p.Ala107=) rs141425824
NM_003172.4(SURF1):c.532A>T (p.Asn178Tyr) rs587753385
NM_003172.4(SURF1):c.54+10G>A rs587598397
NM_003172.4(SURF1):c.543C>T (p.Phe181=) rs62637580
NM_003172.4(SURF1):c.573C>G (p.Thr191=) rs28715079
NM_003172.4(SURF1):c.574_575insCTGC (p.Arg192fs) rs782289759
NM_003172.4(SURF1):c.604G>C (p.Asp202His) rs72619327
NM_003172.4(SURF1):c.631_632del (p.Glu211fs) rs1554768333
NM_003172.4(SURF1):c.752-1G>C rs1391748504
NM_003172.4(SURF1):c.809_826dup (p.Glu270_Ile275dup) rs782161777
NM_003172.4(SURF1):c.883C>T (p.Arg295Cys) rs147312193

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