ClinVar Miner

Submissions for variant NM_013335.4(GMPPA):c.945G>A (p.Glu315=)

gnomAD frequency: 0.02201  dbSNP: rs13428617
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439540 SCV000517805 benign not specified 2016-02-15 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 RCV001510360 SCV001717376 benign Alacrima, achalasia, and intellectual disability syndrome 2025-01-22 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004709987 SCV005240389 benign not provided criteria provided, single submitter not provided

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