ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Athena Diagnostics Inc and "benign" from Ambry Genetics

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: 7
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HGVS dbSNP gnomAD frequency
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) rs140679502 0.00150
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827 0.00013
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) rs200476500 0.00008
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp) rs201138253 0.00006
NM_001267550.2(TTN):c.73873T>C (p.Leu24625=) rs545556079 0.00004
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val) rs886042743

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