ClinVar Miner

Submissions for variant NM_001042492.3(NF1):c.8161-45A>C

gnomAD frequency: 0.00176  dbSNP: rs17879551
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246325 SCV000306301 likely benign not specified criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316374 SCV004016429 likely benign Neurofibromatosis, familial spinal 2023-07-07 criteria provided, single submitter clinical testing

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