ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.158-12del

gnomAD frequency: 0.00343  dbSNP: rs66613527
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001667816 SCV001887091 benign not provided 2020-10-26 criteria provided, single submitter clinical testing
Invitae RCV002073167 SCV002429900 benign Charcot-Marie-Tooth disease axonal type 2Z 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002073167 SCV002554165 benign Charcot-Marie-Tooth disease axonal type 2Z 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271286 SCV002554176 benign Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 2022-03-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001667816 SCV004563287 benign not provided 2023-11-22 criteria provided, single submitter clinical testing

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