ClinVar Miner

Submissions for variant NM_003383.5(VLDLR):c.1313-17A>T

gnomAD frequency: 0.19776  dbSNP: rs6144
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001716659 SCV001941465 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001716659 SCV002403723 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV002243444 SCV002514477 benign Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001716659 SCV005273089 benign not provided criteria provided, single submitter not provided

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