ClinVar Miner

Submissions for variant NM_001382391.1(CSPP1):c.965A>G (p.His322Arg)

gnomAD frequency: 0.00183  dbSNP: rs141389465
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000833341 SCV000975104 likely benign not provided 2018-06-19 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001079389 SCV001091572 benign Joubert syndrome 21 2025-02-03 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816918 SCV002065494 benign not specified 2017-11-09 criteria provided, single submitter clinical testing

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