ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.699-20T>C

gnomAD frequency: 0.01322  dbSNP: rs78973434
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001685347 SCV001473842 benign not provided 2023-10-02 criteria provided, single submitter clinical testing
GeneDx RCV001685347 SCV001902209 benign not provided 2018-07-31 criteria provided, single submitter clinical testing
Invitae RCV002069526 SCV002403035 benign Charcot-Marie-Tooth disease axonal type 2Z 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002069526 SCV002554076 benign Charcot-Marie-Tooth disease axonal type 2Z 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271204 SCV002554087 benign Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499500 SCV002795095 likely benign Charcot-Marie-Tooth disease axonal type 2Z; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 2021-10-05 criteria provided, single submitter clinical testing

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