ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.96C>T (p.Ala32=)

gnomAD frequency: 0.40756  dbSNP: rs737924
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001510112 SCV001717054 benign Charcot-Marie-Tooth disease axonal type 2Z 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001712915 SCV001940000 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001510112 SCV002554187 benign Charcot-Marie-Tooth disease axonal type 2Z 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271252 SCV002554198 benign Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 2022-03-15 criteria provided, single submitter clinical testing

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