ClinVar Miner

Submissions for variant NM_001620.3(AHNAK):c.7562C>G (p.Pro2521Arg)

gnomAD frequency: 0.00039  dbSNP: rs143391519
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000966223 SCV001113518 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000966223 SCV004700486 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing AHNAK: BP4, BS2
Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. RCV000201288 SCV000222725 uncertain significance Hirschsprung disease, susceptibility to, 1 2015-04-01 no assertion criteria provided research

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