ClinVar Miner

Variants with conflicting interpretations "likely benign" from Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia and "uncertain significance" from any submitter

Minimum review status of the submission from Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia: Collection method of the submission from Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 27
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HGVS dbSNP gnomAD frequency
NM_130797.4(DPP6):c.227A>T (p.Asp76Val) rs572667303 0.01073
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser) rs137876961 0.00404
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_194248.3(OTOF):c.2215-80T>C rs143141993 0.00268
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg) rs74315416 0.00220
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala) rs141893001 0.00203
NM_004525.3(LRP2):c.13685T>C (p.Val4562Ala) rs142245618 0.00201
NM_004004.6(GJB2):c.*3C>A rs111033460 0.00155
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219 0.00083
NM_001379180.1(ESRRB):c.*1535G>A rs200237229 0.00056
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_001077525.3(MTMR14):c.1151G>A (p.Ser384Asn) rs115607360 0.00047
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00047
NM_001031679.3(MSRB3):c.530C>T (p.Pro177Leu) rs144038296 0.00041
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947 0.00032
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met)
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.941-4G>A
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001164508.2(NEB):c.20467-5_20467-4dup rs10687343
NM_024079.5(ALG8):c.369-6A>G rs201483866

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