ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Gharavi Laboratory, Columbia University and "likely pathogenic" from GeneDx

Minimum review status of the submission from Gharavi Laboratory, Columbia University: Collection method of the submission from Gharavi Laboratory, Columbia University:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 11
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HGVS dbSNP gnomAD frequency
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_014625.4(NPHS2):c.851C>T (p.Ala284Val) rs780761368 0.00004
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000091.5(COL4A3):c.1504+1G>A rs1559882199
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_001005242.3(PKP2):c.1379-2047_1379-2043del rs775995156
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro) rs1567177684
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109

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