ClinVar Miner

Submissions for variant NM_000267.3(NF1):c.730+32dup

dbSNP: rs71142032
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000989780 SCV001140339 benign Neurofibromatosis, type 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001579840 SCV001892583 benign not provided 2021-08-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000989780 SCV002561301 benign Neurofibromatosis, type 1 2022-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000989780 SCV004265314 benign Neurofibromatosis, type 1 2025-01-23 criteria provided, single submitter clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001002257 SCV001798927 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579840 SCV001808683 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001002257 SCV001927928 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001002257 SCV002038429 benign not specified no assertion criteria provided clinical testing

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