ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.639C>G (p.Thr213=)

gnomAD frequency: 0.00101  dbSNP: rs143391538
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002811867 SCV003206709 benign not provided 2024-12-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003111597 SCV003800070 likely benign Anemia, congenital dyserythropoietic, type 1a 2023-07-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003936323 SCV004766179 likely benign CDAN1-related disorder 2019-02-26 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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