ClinVar Miner

Submissions for variant NM_013335.4(GMPPA):c.1137G>T (p.Lys379Asn)

gnomAD frequency: 0.00044  dbSNP: rs188765261
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000981740 SCV001129734 likely benign Alacrima, achalasia, and intellectual disability syndrome 2024-11-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003936224 SCV004754874 likely benign GMPPA-related disorder 2022-04-25 no assertion criteria provided 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).

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