ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Knight Diagnostic Laboratories, Oregon Health and Sciences University and "benign" from any submitter

Minimum review status of the submission from Knight Diagnostic Laboratories, Oregon Health and Sciences University: Collection method of the submission from Knight Diagnostic Laboratories, Oregon Health and Sciences University:
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ClinVar version:
Total variants with conflicting interpretations: 17
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HGVS dbSNP gnomAD frequency
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_201596.3(CACNB2):c.121-4T>G rs74120235 0.00088
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00012
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) rs373261115 0.00010
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val) rs13306505 0.00005
NM_000251.3(MSH2):c.942+29del rs11309117
NM_000535.7(PMS2):c.706-4del rs60794673
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445

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