ClinVar Miner

Variants with conflicting interpretations "likely benign" from Athena Diagnostics and "pathogenic" from any submitter

Minimum review status of the submission from Athena Diagnostics: Collection method of the submission from Athena Diagnostics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 7
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383 0.00057
NM_000335.5(SCN5A):c.80G>A (p.Arg27His) rs199473045 0.00017
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_003680.4(YARS1):c.1099C>T (p.Arg367Trp) rs376054085 0.00003
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605

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