ClinVar Miner

Submissions for variant NM_012073.5(CCT5):c.1498+36_1498+38del

gnomAD frequency: 0.73432  dbSNP: rs370306096
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554724 SCV001776019 benign Hereditary sensory and autonomic neuropathy with spastic paraplegia 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001658293 SCV001880989 benign not provided 2021-06-18 criteria provided, single submitter clinical testing

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