ClinVar Miner

Variants with conflicting interpretations "benign" from Athena Diagnostics Inc and "uncertain significance" from Department of Pathology and Laboratory Medicine, Sinai Health System

Minimum review status of the submission from Athena Diagnostics Inc: Collection method of the submission from Athena Diagnostics Inc:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129 0.00259
NM_001151.4(SLC25A4):c.490A>G (p.Ile164Val) rs143511445 0.00173
NM_181882.3(PRX):c.1574T>C (p.Val525Ala) rs149715830 0.00136
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=) rs143511306 0.00124
NM_001378969.1(KCND3):c.1573A>G (p.Met525Val) rs145890206 0.00076
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881 0.00049
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958 0.00031
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser) rs150710956 0.00022
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935 0.00011
NM_024411.5(PDYN):c.268G>A (p.Gly90Arg) rs201585283 0.00006
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) rs139993038

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