ClinVar Miner

Submissions for variant NM_001128159.3(VPS53):c.81C>T (p.Ile27=)

gnomAD frequency: 0.16882  dbSNP: rs11558129
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435996 SCV000519731 benign not specified 2016-02-11 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.
Genome-Nilou Lab RCV002244883 SCV002514516 benign Pontocerebellar hypoplasia type 2E 2021-12-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524883 SCV003200456 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002524883 SCV005249155 benign not provided criteria provided, single submitter not provided

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