ClinVar Miner

Variants with conflicting interpretations "likely benign" from Ambry Genetics and "pathogenic" from any submitter

Minimum review status of the submission from Ambry Genetics: Collection method of the submission from Ambry Genetics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 12
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_000483.5(APOC2):c.178G>A (p.Glu60Lys) rs5122 0.00229
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706 0.00094
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 0.00051
NM_001371904.1(APOA5):c.944C>T (p.Ala315Val) rs143292359 0.00051
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233 0.00040
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) rs147205617 0.00029
NM_000335.5(SCN5A):c.80G>A (p.Arg27His) rs199473045 0.00017
NM_000039.3(APOA1):c.388AAG[1] (p.Lys131del) rs532489785
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser) rs144422014
Single allele

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