ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.75C>T (p.Ser25=)

gnomAD frequency: 0.00005  dbSNP: rs146683705
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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 RCV001462738 SCV001666663 likely benign Aspartylglucosaminuria 2024-01-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956014 SCV004767284 likely benign AGA-related disorder 2019-11-26 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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