ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital and "pathogenic" from any submitter

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:
ClinVar version:
Total variants with conflicting interpretations: 8
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HGVS dbSNP
NM_000071.2(CBS):c.1280C>T (p.Pro427Leu) rs863223434
NM_000267.3(NF1):c.1062+3A>G rs1057521098
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln) rs587777721
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622

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