Variants with conflicting interpretations studied for Transient Neonatal Diabetes, Dominant/Recessive

Minimum review status of the submission for Transient Neonatal Diabetes, Dominant/Recessive:		Collection method of the submission for Transient Neonatal Diabetes, Dominant/Recessive:
Minimum review status of the other submission:		Collection method of the other submission:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		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
1	4	0	14	5	2	0	19

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
Transient Neonatal Diabetes, Dominant/Recessive		uncertain significance	likely benign	benign	association	likely risk allele
	uncertain significance	0	1	2	0	1
	likely benign	1	0	11	1	0
	benign	1	3	0	0	0

Condition to condition summary #

Total conditions: 6

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Condition	Variants with at least 2 submissions on the same condition and no conflicts	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 any conflict
Neonatal insulin-dependent diabetes mellitus	2	5	4	1	10
not provided	5	9	1	0	10
not specified	3	4	0	0	4
Type 1 diabetes mellitus 2; Maturity-onset diabetes of the young type 10; Hyperproinsulinemia; Diabetes mellitus, permanent neonatal 4	2	3	0	0	3
Hypoinsulinemia	0	0	0	1	1
INS-IGF2-related condition	0	1	0	0	1

All variants with conflicting interpretations #

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_000207.3(INS):c.187+11T>C	rs5506	0.93263
NM_000207.3(INS):c.*9C>T	rs3842752	0.16663
NM_000207.3(INS):c.-18+4_-18+5insTTGC	rs3842740	0.07357
NM_000360.4(TH):c.1401C>T (p.Asp467=)	rs3842724	0.02616
NM_000207.3(INS):c.36G>A (p.Ala12=)	rs3842744	0.01335
NM_000360.4(TH):c.1278G>A (p.Thr426=)	rs36097848	0.01234
NM_000360.4(TH):c.1200+9C>T	rs11564717	0.01045
NM_000207.3(INS):c.-9C>T	rs5505	0.00878
NM_000360.4(TH):c.*277G>A	rs3842725	0.00418
NM_000207.3(INS):c.188-10G>A	rs41275198	0.00262
NM_000207.3(INS):c.*28G>A	rs778107057	0.00010
NM_000207.3(INS):c.*2C>T	rs200306755	0.00006
NM_000207.3(INS):c.*42C>T	rs376867722	0.00006
NM_000207.3(INS):c.130G>A (p.Gly44Arg)	rs765512575	0.00003
NM_000207.3(INS):c.66C>T (p.Ala22=)	rs375371953	0.00003
NM_000207.3(INS):c.-18+3C>G	rs886048112
NM_000207.3(INS):c.188-3C>A	rs886048111
NM_000207.3(INS):c.67G>A (p.Ala23Thr)	rs13306444
NM_000207.3(INS):c.72C>A (p.Ala24=)	rs539284976

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