ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Department of Pathology and Laboratory Medicine, Sinai Health System and "uncertain significance" from any submitter

Minimum review status of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System: Collection method of the submission from Department of Pathology and Laboratory Medicine, Sinai Health System:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter) rs200800978 0.00016
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646 0.00003
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000253.4(MTTP):c.-149C>A rs886058955
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_002907.4(RECQL):c.132_135del (p.Lys44_Lys45insTer) rs775055596
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299

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