ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital and "likely benign" from GeneDx

Minimum review status of the submission from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital: Collection method of the submission from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital:
Minimum review status of the other submission: Collection method of the other submission:
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Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val) rs200398000 0.00096
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg) rs144155507 0.00063
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215 0.00043
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met) rs199793620 0.00034
NM_001191061.2(SLC25A22):c.679G>A (p.Val227Met) rs200603610 0.00024
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys) rs199663613 0.00020
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His) rs148321416 0.00015
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu) rs200177134 0.00012
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591 0.00003
NM_001378120.1(MBD5):c.2789A>C (p.Gln930Pro) rs564759063 0.00002
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del) rs755655903
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237

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