ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.2747+5_2747+6del

gnomAD frequency: 0.00339  dbSNP: rs67357185
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528240 SCV000655820 benign Charcot-Marie-Tooth disease axonal type 2Z 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001613374 SCV001835156 benign not provided 2019-04-02 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000528240 SCV002554658 benign Charcot-Marie-Tooth disease axonal type 2Z 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270670 SCV002554769 benign Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 2022-03-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002438484 SCV002747877 likely benign Inborn genetic diseases 2019-10-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen RCV001613374 SCV004154870 likely benign not provided 2023-09-01 criteria provided, single submitter clinical testing MORC2: BP4, BS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001613374 SCV004563313 likely benign not provided 2023-11-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003952874 SCV004781432 benign MORC2-related disorder 2019-11-06 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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