ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Gharavi Laboratory, Columbia University and "likely benign" 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_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_002968.3(SALL1):c.1738A>G (p.Ile580Val) rs761575154 0.00008
NM_017780.4(CHD7):c.2194C>G (p.Pro732Ala) rs200277422 0.00008
NM_017780.4(CHD7):c.8356G>A (p.Gly2786Arg) rs765315726 0.00005
NM_001374828.1(ARID1B):c.1211GAG[4] (p.Gly408_Gly411del) rs747790383
NM_001374828.1(ARID1B):c.1281GGC[5] (p.Ala433dup) rs764418312
NM_001374828.1(ARID1B):c.594GCAGCAGCAGCAGCAGCAACAGCA[1] (p.Gln207_Gln214del) rs770869529
NM_006015.6(ARID1A):c.48GCC[7] (p.Pro20_Pro21dup) rs748085214
NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys) rs144282156
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del) rs757588621

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