ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from ClinGen RASopathy Variant Curation Expert Panel and "likely benign" from Invitae

Minimum review status of the submission from ClinGen RASopathy Variant Curation Expert Panel: Collection method of the submission from ClinGen RASopathy Variant Curation Expert Panel:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127 0.00017
NM_002880.4(RAF1):c.935T>C (p.Val312Ala) rs370243307 0.00010
NM_004333.6(BRAF):c.622A>G (p.Ile208Val) rs727504571 0.00003

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