ClinVar Miner

Variants with conflicting interpretations between St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital and Invitae

Minimum review status of the submission from St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital: Collection method of the submission from St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital:
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
194 47 0 8 16 0 0 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.

uncertain significance likely benign benign
uncertain significance 0 13 2
likely benign 1 0 7
benign 0 1 0

All variants with conflicting interpretations #

Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629
NM_000059.3(BRCA2):c.8668C>A (p.Leu2890Ile) rs80359127
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000264.5(PTCH1):c.2635G>A (p.Asp879Asn) rs750373573
NM_000321.2(RB1):c.731T>C (p.Ile244Thr) rs147754935
NM_000368.4(TSC1):c.64C>T (p.Arg22Trp) rs749030456
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578
NM_000548.5(TSC2):c.5336A>G (p.Gln1779Arg) rs748947919
NM_002354.2(EPCAM):c.93C>G (p.Asn31Lys) rs555329870
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_004329.2(BMPR1A):c.499A>G (p.Met167Val) rs200951235
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp) rs587780119
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632
NM_006231.4(POLE):c.940T>G (p.Ser314Ala) rs770403791
NM_007294.3(BRCA1):c.5075-6C>A rs397507240
NM_020975.6(RET):c.625+9C>T rs201453349
NM_177438.2(DICER1):c.2720T>C (p.Ile907Thr) rs200408568
NM_177438.2(DICER1):c.3428T>C (p.Leu1143Pro) rs139786661
NM_177438.2(DICER1):c.3553G>A (p.Ala1185Thr) rs150514959

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