ClinVar Miner

Submissions for variant NM_002500.5(NEUROD1):c.133A>G (p.Thr45Ala)

gnomAD frequency: 0.67693  dbSNP: rs1801262
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000986952 SCV001136112 benign Maturity onset diabetes mellitus in young 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001517775 SCV001726343 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001784484 SCV002026729 benign Maturity-onset diabetes of the young type 6 2021-09-05 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003890146 SCV004705520 benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Breakthrough Genomics, Breakthrough Genomics RCV001517775 SCV005241513 benign not provided criteria provided, single submitter not provided

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