ClinVar Miner

Variants from Martin Pollak Laboratory, Beth Israel Deaconess Medical Center with conflicting interpretations

Location: United States — Primary collection method: not provided
Minimum review status of the submission from Martin Pollak Laboratory, Beth Israel Deaconess Medical Center: Collection method of the submission from Martin Pollak Laboratory, Beth Israel Deaconess Medical Center:
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
217 0 6 0 10 0 2 17

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 submitters
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center pathogenic uncertain significance likely benign benign
uncertain significance 2 6 9 1

Submitter to submitter summary #

Total submitters: 5
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Submitter 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
Invitae 0 0 4 0 9 0 0 13
Athena Diagnostics Inc 0 0 0 0 1 0 1 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 1 0 0 0 1 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 0 2
GeneDx 0 0 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 17
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HGVS dbSNP
NM_000085.4(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133
NM_000112.3(SLC26A2):c.172C>T (p.Arg58Cys) rs369318758
NM_000316.3(PTH1R):c.1155C>T (p.Leu385=) rs201360775
NM_000338.3(SLC12A1):c.1998T>C (p.Asn666=) rs200417237
NM_000338.3(SLC12A1):c.2262C>T (p.Asp754=) rs372953090
NM_000342.4(SLC4A1):c.2701C>T (p.Arg901Trp) rs201265160
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn) rs201177696
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg) rs200263975
NM_001008389.3(UMOD):c.1648G>A (p.Val550Ile) rs188709583
NM_001008389.3(UMOD):c.567C>T (p.Tyr189=) rs387907553
NM_001098.3(ACO2):c.250C>T (p.Arg84Ter) rs387907389
NM_001126108.2(SLC12A3):c.1710G>A (p.Ala570=) rs387907471
NM_001126108.2(SLC12A3):c.1956C>A (p.Pro652=) rs200091201
NM_001126108.2(SLC12A3):c.2310C>T (p.Gly770=) rs375542454
NM_001177316.2(SLC34A3):c.1143G>A (p.Ala381=) rs369565150
NM_022042.4(SLC26A1):c.1622G>A (p.Arg541His) rs376289512
NM_032387.5(WNK4):c.2476G>A (p.Gly826Ser) rs190384194

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