ClinVar Miner

Variants with conflicting interpretations "likely benign" from Genome Diagnostics Laboratory, University Medical Center Utrecht and "likely pathogenic" from any submitter

Minimum review status of the submission from Genome Diagnostics Laboratory, University Medical Center Utrecht: Collection method of the submission from Genome Diagnostics Laboratory, University Medical Center Utrecht:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 19
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HGVS dbSNP gnomAD frequency
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_005634.3(SOX3):c.157G>C (p.Val53Leu) rs200361128 0.00403
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His) rs147919567 0.00147
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521 0.00117
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=) rs375565646 0.00004
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00003
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685

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