ClinVar Miner

Submissions for variant NM_138477.4(CDAN1):c.2738A>T (p.Gln913Leu)

gnomAD frequency: 0.00380  dbSNP: rs76947588
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000965980 SCV001113265 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001804138 SCV002047854 likely benign Anemia, congenital dyserythropoietic, type 1a 2023-10-27 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000965980 SCV004136452 benign not provided 2022-07-01 criteria provided, single submitter clinical testing CDAN1: BP4, BS1, BS2

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