ClinVar Miner

Submissions for variant NM_012073.5(CCT5):c.530+100C>T

gnomAD frequency: 0.73499  dbSNP: rs2578614
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001554718 SCV001776012 benign Hereditary sensory and autonomic neuropathy with spastic paraplegia 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001615327 SCV001834950 benign not provided 2021-06-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615327 SCV005298662 benign not provided criteria provided, single submitter not provided

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