ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.2238A>G (p.Glu746=)

gnomAD frequency: 0.00227  dbSNP: rs41279975
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001001934 SCV000655812 benign Charcot-Marie-Tooth disease axonal type 2Z 2024-01-24 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001706674 SCV001159703 benign not provided 2023-10-02 criteria provided, single submitter clinical testing
GeneDx RCV001706674 SCV001830654 benign not provided 2018-11-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001706674 SCV002544718 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing MORC2: BP4, BP7, BS1
Genome-Nilou Lab RCV002270668 SCV002553580 benign Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001001934 SCV002555430 benign Charcot-Marie-Tooth disease axonal type 2Z 2022-03-15 criteria provided, single submitter clinical testing

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