ClinVar Miner

Variants in gene combination MYH2, MYHAS 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
463 28 0 7 9 0 4 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.

likely pathogenic uncertain significance likely benign benign
likely pathogenic 0 3 0 2
uncertain significance 3 0 6 5
likely benign 0 6 0 7
benign 2 5 7 0

All variants with conflicting interpretations #

Total variants: 16
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NM_017534.6(MYH2):c.1160C>T (p.Ala387Val) rs527337606
NM_017534.6(MYH2):c.2106C>T (p.Asn702=) rs145039915
NM_017534.6(MYH2):c.2304+7T>G rs370223713
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973
NM_017534.6(MYH2):c.2655G>A (p.Thr885=) rs141764966
NM_017534.6(MYH2):c.2908G>A (p.Val970Ile) rs143872329
NM_017534.6(MYH2):c.3128C>T (p.Ser1043Phe) rs200217946
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val) rs142586585
NM_017534.6(MYH2):c.3384C>T (p.Ile1128=) rs139130605
NM_017534.6(MYH2):c.3432C>T (p.Asp1144=) rs184725551
NM_017534.6(MYH2):c.3582A>G (p.Thr1194=) rs200505060
NM_017534.6(MYH2):c.4110C>T (p.Ala1370=) rs377674160
NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met) rs138393827
NM_017534.6(MYH2):c.5115A>G (p.Arg1705=) rs1042270
NM_017534.6(MYH2):c.5673+1G>C rs1400481053
NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln) rs34161789

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