ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1499-9T>C

gnomAD frequency: 0.00047  dbSNP: rs201213165
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539764 SCV000655807 benign Charcot-Marie-Tooth disease axonal type 2Z 2023-12-15 criteria provided, single submitter clinical testing
GeneDx RCV001613373 SCV001841910 benign not provided 2019-05-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000539764 SCV002553269 benign Charcot-Marie-Tooth disease axonal type 2Z 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270664 SCV002553381 benign Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 2022-03-15 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001613373 SCV001925808 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001613373 SCV001932627 likely benign not provided no assertion criteria provided clinical testing

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