ClinVar Miner

Submissions for variant NM_001303256.3(MORC2):c.1437A>G (p.Pro479=)

gnomAD frequency: 0.39939  dbSNP: rs3747151
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001518490 SCV001727188 benign Charcot-Marie-Tooth disease axonal type 2Z 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001673096 SCV001882118 benign not provided 2018-07-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001518490 SCV002553492 benign Charcot-Marie-Tooth disease axonal type 2Z 2022-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002271255 SCV002553930 benign Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy 2022-03-15 criteria provided, single submitter clinical testing

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