ClinVar Miner

Submissions for variant NM_001128159.3(VPS53):c.1524C>T (p.Tyr508=)

gnomAD frequency: 0.33961  dbSNP: rs2075443
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000438471 SCV000519657 benign not specified 2016-01-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000438471 SCV001623111 benign not specified 2021-04-30 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001544172 SCV001763160 benign Pontocerebellar hypoplasia type 2E 2021-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524882 SCV003343663 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002524882 SCV005249129 benign not provided criteria provided, single submitter not provided

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