ClinVar Miner

Submissions for variant NM_013335.4(GMPPA):c.1162+18C>T

gnomAD frequency: 0.03828  dbSNP: rs111553864
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440121 SCV000518698 benign not specified 2016-02-08 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 RCV001509933 SCV001716846 benign Alacrima, achalasia, and intellectual disability syndrome 2024-01-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004708829 SCV005240391 benign not provided criteria provided, single submitter not provided

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