ClinVar Miner

Submissions for variant NM_013335.4(GMPPA):c.768C>T (p.Tyr256=)

gnomAD frequency: 0.00322  dbSNP: rs146215853
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001531347 SCV000518701 likely benign not provided 2018-05-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000954080 SCV001100688 benign Alacrima, achalasia, and intellectual disability syndrome 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001531347 SCV001746403 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing GMPPA: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences RCV003912650 SCV004732246 likely benign GMPPA-related disorder 2021-05-05 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics RCV001531347 SCV005258919 likely benign not provided criteria provided, single submitter not provided

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