ClinVar Miner

Variants with conflicting interpretations "likely benign" from Genetics and Genomics Program, Sidra Medicine and "uncertain significance" from any submitter

Minimum review status of the submission from Genetics and Genomics Program, Sidra Medicine: Collection method of the submission from Genetics and Genomics Program, Sidra Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 4
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HGVS dbSNP gnomAD frequency
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282 0.00016
NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln) rs11570060 0.00004
NM_000256.3(MYBPC3):c.3058A>G (p.Ser1020Gly) rs2095879641 0.00001

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