ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Color Diagnostics, LLC DBA Color Health and "pathogenic" from Ambry Genetics

Minimum review status of the submission from Color Diagnostics, LLC DBA Color Health: Collection method of the submission from Color Diagnostics, LLC DBA Color Health:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 22
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HGVS dbSNP gnomAD frequency
NM_001048174.2(MUTYH):c.2T>C (p.Met1Thr) rs201163858 0.00001
NM_001048174.2(MUTYH):c.614G>A (p.Gly205Asp) rs147487160 0.00001
NM_000038.6(APC):c.1626+3A>G rs1060503372
NM_000051.4(ATM):c.2639-22_2639-20del rs1064795554
NM_000051.4(ATM):c.4110-9C>G rs730881367
NM_000051.4(ATM):c.4397_4398delinsCG (p.Arg1466Pro) rs886038217
NM_000051.4(ATM):c.6198G>C (p.Gln2066His) rs786203341
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys) rs786203394
NM_000059.4(BRCA2):c.7857G>C (p.Trp2619Cys) rs80359011
NM_000077.5(CDKN2A):c.242C>G (p.Pro81Arg) rs11552823
NM_000077.5(CDKN2A):c.250G>T (p.Asp84Tyr) rs11552822
NM_000179.3(MSH6):c.1282A>G (p.Lys428Glu) rs761822293
NM_000179.3(MSH6):c.3470G>A (p.Gly1157Asp) rs752212361
NM_000251.3(MSH2):c.1807G>C (p.Asp603His) rs63750657
NM_000251.3(MSH2):c.1808A>T (p.Asp603Val) rs267607985
NM_000251.3(MSH2):c.1818_1877del (p.Ser607_Glu626del) rs1553368576
NM_000251.3(MSH2):c.1979A>G (p.Asp660Gly) rs1085308057
NM_000251.3(MSH2):c.2030C>G (p.Thr677Arg) rs876660711
NM_000546.6(TP53):c.388C>T (p.Leu130Phe) rs863224683
NM_000546.6(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.6(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_007294.4(BRCA1):c.5201T>G (p.Phe1734Cys) rs397509237

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