ClinVar Miner

Submissions for variant NM_013335.4(GMPPA):c.366C>G (p.Pro122=)

gnomAD frequency: 0.00035  dbSNP: rs186735505
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000615357 SCV000725036 likely benign not specified 2017-12-11 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000891926 SCV001035774 benign Alacrima, achalasia, and intellectual disability syndrome 2021-05-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711222 SCV005258916 likely benign not provided criteria provided, single submitter not provided

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