ClinVar Miner

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

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: 11
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HGVS dbSNP
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291
NM_002693.2(POLG):c.2481-7C>T rs2307448
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507
NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) rs141330687
NM_182961.4(SYNE1):c.19692+3G>A rs150304757
Single allele rs28359170

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