ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.966A>T (p.Gly322=)

gnomAD frequency: 0.05416  dbSNP: rs16989204
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000558057 SCV000655837 benign Charcot-Marie-Tooth disease axonal type 2Z 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001672867 SCV001882305 benign not provided 2018-08-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000558057 SCV002554032 benign Charcot-Marie-Tooth disease axonal type 2Z 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002270672 SCV002554043 benign Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 2022-03-15 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915638 SCV004731839 benign MORC2-related disorder 2019-10-28 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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