ClinVar Miner

Variants with conflicting interpretations studied for SON-related condition

Minimum review status of the submission for SON-related condition: Collection method of the submission for SON-related condition:
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
29 41 0 18 9 0 0 27

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.

All conditions
SON-related condition uncertain significance likely benign benign
uncertain significance 0 2 1
likely benign 6 0 8
benign 0 10 0

Condition to condition summary #

Total conditions: 1
Download table as spreadsheet
Condition 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
not provided 0 41 0 18 9 0 0 27

All variants with conflicting interpretations #

Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_138927.4(SON):c.5931C>G (p.Arg1977=) rs150856507 0.00720
NM_138927.4(SON):c.5754T>C (p.Val1918=) rs150122403 0.00291
NM_138927.4(SON):c.5280T>C (p.Asp1760=) rs77137462 0.00278
NM_138927.4(SON):c.2814T>G (p.Gly938=) rs139823990 0.00240
NM_138927.4(SON):c.3326C>T (p.Ala1109Val) rs144188863 0.00203
NM_138927.4(SON):c.1664C>T (p.Thr555Met) rs13049658 0.00135
NM_138927.4(SON):c.3447G>A (p.Leu1149=) rs148064125 0.00107
NM_138927.4(SON):c.5964T>C (p.Pro1988=) rs139304331 0.00070
NM_138927.4(SON):c.497C>T (p.Ala166Val) rs140389869 0.00068
NM_138927.4(SON):c.2661G>A (p.Ala887=) rs117188819 0.00036
NM_138927.4(SON):c.4228G>A (p.Val1410Ile) rs144716297 0.00020
NM_138927.4(SON):c.2210C>T (p.Ala737Val) rs143709811 0.00011
NM_138927.4(SON):c.1705G>T (p.Val569Leu) rs778563835 0.00009
NM_138927.4(SON):c.2550C>A (p.Thr850=) rs73900349 0.00009
NM_138927.4(SON):c.6657+147C>T rs756936782 0.00006
NM_138927.4(SON):c.955G>C (p.Glu319Gln) rs767401593 0.00004
NM_138927.4(SON):c.5170A>G (p.Asn1724Asp) rs372853725 0.00003
NM_138927.4(SON):c.2713A>G (p.Met905Val) rs763563040 0.00001
NM_138927.4(SON):c.77+6C>G rs201422694 0.00001
NM_138927.4(SON):c.1106C>T (p.Ala369Val)
NM_138927.4(SON):c.1361C>G (p.Pro454Arg)
NM_138927.4(SON):c.2098T>C (p.Ser700Pro)
NM_138927.4(SON):c.3105AGCCTACGAGCGCTCTATGATGTC[1] (p.1036AYERSMMS[1]) rs746317953
NM_138927.4(SON):c.3662C>T (p.Ser1221Leu)
NM_138927.4(SON):c.4119_4142del (p.1370SSTVTVLE[1])
NM_138927.4(SON):c.498G>A (p.Ala166=)
NM_138927.4(SON):c.5868CAGCCGCACCCCCAGCCGCCG[3] (p.1957SRTPSRR[5]) rs1462103775

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