ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.645A>G (p.Thr215=)

gnomAD frequency: 0.00004  dbSNP: rs201441868
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000979826 SCV001127773 likely benign Aspartylglucosaminuria 2024-01-11 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702872 SCV001931814 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001702872 SCV001968884 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000979826 SCV002084884 likely benign Aspartylglucosaminuria 2021-02-23 no assertion criteria provided clinical testing

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