ClinVar Miner

Submissions for variant NM_003383.5(VLDLR):c.1066+43C>T

gnomAD frequency: 0.18162  dbSNP: rs10967320
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001639550 SCV001851684 benign not provided 2018-06-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243342 SCV002514473 benign Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001639550 SCV005273083 benign not provided criteria provided, single submitter not provided

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