ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.2841+20C>T

gnomAD frequency: 0.00218  dbSNP: rs192723178
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001571834 SCV001796377 likely benign not provided 2019-05-18 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001571834 SCV002048560 benign not provided 2023-10-09 criteria provided, single submitter clinical testing
Invitae RCV002072225 SCV002420334 benign Charcot-Marie-Tooth disease axonal type 2Z 2024-01-29 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002072225 SCV002554109 benign Charcot-Marie-Tooth disease axonal type 2Z 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271268 SCV002554220 benign Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506679 SCV002804493 likely benign Charcot-Marie-Tooth disease axonal type 2Z; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 2022-01-14 criteria provided, single submitter clinical testing

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