ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.894A>G (p.Val298=)

gnomAD frequency: 0.00001  dbSNP: rs562612569
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000951893 SCV001098344 benign Charcot-Marie-Tooth disease axonal type 2Z 2024-01-28 criteria provided, single submitter clinical testing
GeneDx RCV001644865 SCV001858339 benign not provided 2021-05-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000951893 SCV002554054 benign Charcot-Marie-Tooth disease axonal type 2Z 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271121 SCV002554065 benign Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 2022-03-15 criteria provided, single submitter clinical testing

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