ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.378C>G (p.Thr126=)

gnomAD frequency: 0.29850  dbSNP: rs2072132
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001518491 SCV001727189 benign Charcot-Marie-Tooth disease axonal type 2Z 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001647312 SCV001860507 benign not provided 2018-07-08 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001518491 SCV002554098 benign Charcot-Marie-Tooth disease axonal type 2Z 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271256 SCV002554110 benign Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 2022-03-15 criteria provided, single submitter clinical testing

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