ClinVar Miner

Submissions for variant NC_000002.11:g.(?_241656781)_(241709133_?)dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001509959 SCV001716878 benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2020-11-11 criteria provided, single submitter clinical testing

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