ClinVar Miner

Submissions for variant NM_013335.4(GMPPA):c.489+16G>A

gnomAD frequency: 0.00085  dbSNP: rs202131537
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000604660 SCV000716009 likely benign not specified 2017-08-22 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 RCV002062944 SCV002401358 benign Alacrima, achalasia, and intellectual disability syndrome 2024-01-02 criteria provided, single submitter clinical testing

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