ClinVar Miner

Variants in gene MYL3 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 Variants with at least 2 submissions 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 kind of conflict
82 30 0 13 3 0 10 24

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 3 4 0 0
likely pathogenic 3 0 8 0 0
uncertain significance 4 8 0 3 0
likely benign 0 0 3 0 10
benign 0 0 0 10 0

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_000258.2(MYL3):c.*13+5G>C rs200422816
NM_000258.2(MYL3):c.130-14G>T rs192329378
NM_000258.2(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.2(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000258.2(MYL3):c.184G>A (p.Asp62Asn) rs730880954
NM_000258.2(MYL3):c.235G>A (p.Val79Ile) rs150634297
NM_000258.2(MYL3):c.261C>T (p.Pro87=) rs556711370
NM_000258.2(MYL3):c.281G>A (p.Arg94His) rs199474703
NM_000258.2(MYL3):c.286C>T (p.Leu96=) rs772804040
NM_000258.2(MYL3):c.307+15C>T rs184025552
NM_000258.2(MYL3):c.411G>T (p.Leu137=) rs2233265
NM_000258.2(MYL3):c.427G>A (p.Glu143Lys) rs104893750
NM_000258.2(MYL3):c.451G>A (p.Ala151Thr) rs869025486
NM_000258.2(MYL3):c.454G>A (p.Glu152Lys) rs199474705
NM_000258.2(MYL3):c.461G>A (p.Arg154His) rs104893749
NM_000258.2(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000258.2(MYL3):c.477G>T (p.Thr159=) rs148365503
NM_000258.2(MYL3):c.482-14C>A rs201780962
NM_000258.2(MYL3):c.518T>A (p.Met173Lys) rs730880962
NM_000258.2(MYL3):c.532G>A (p.Asp178Asn) rs145520567
NM_000258.2(MYL3):c.559+6C>T rs199474709
NM_000258.2(MYL3):c.69C>T (p.Pro23=) rs2233264
NM_000258.2(MYL3):c.81T>C (p.Pro27=) rs147584015
NM_000258.2(MYL3):c.92G>A (p.Arg31His) rs199639940

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