ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.226+18T>C

gnomAD frequency: 0.00279  dbSNP: rs114021247
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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 RCV001587316 SCV001472964 benign not provided 2020-12-12 criteria provided, single submitter clinical testing
GeneDx RCV001587316 SCV001816799 likely benign not provided 2018-10-27 criteria provided, single submitter clinical testing
Invitae RCV002069521 SCV002399170 benign Charcot-Marie-Tooth disease axonal type 2Z 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002069521 SCV002554143 benign Charcot-Marie-Tooth disease axonal type 2Z 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271203 SCV002554154 benign Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 2022-03-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499496 SCV002808644 likely benign Charcot-Marie-Tooth disease axonal type 2Z; Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 2022-05-17 criteria provided, single submitter clinical testing

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