ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Gharavi Laboratory,Columbia University and "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: 5
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HGVS dbSNP
NM_018848.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg) rs104886111
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_153240.5(NPHP3):c.2694-2_2694-1del rs751527253
NM_198056.2(SCN5A):c.3946C>T (p.Arg1316Ter) rs1553695764

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