ClinVar Miner

Submissions for variant NM_012073.5(CCT5):c.332-18C>G

gnomAD frequency: 0.01963  dbSNP: rs11741923
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001817 SCV001159486 benign Hereditary sensory and autonomic neuropathy with spastic paraplegia 2023-11-03 criteria provided, single submitter clinical testing
GeneDx RCV001675979 SCV001895497 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001001817 SCV002425080 benign Hereditary sensory and autonomic neuropathy with spastic paraplegia 2024-01-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001675979 SCV005298659 benign not provided criteria provided, single submitter not provided

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