ClinVar Miner

Submissions for variant NC_000008.11:g.64798895G>C

gnomAD frequency: 0.02967  dbSNP: rs117576566
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001515357 SCV001723412 benign Spastic paraplegia 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV001550763 SCV001771147 likely benign not provided 2018-06-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 15007371)

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