ClinVar Miner

Submissions for variant NM_003872.3(NRP2):c.1000C>T (p.Arg334Cys)

gnomAD frequency: 0.00186  dbSNP: rs114144673
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004692883 SCV005188232 uncertain significance not provided criteria provided, single submitter not provided
Clinical Genetics, Erasmus University Medical Center RCV000508614 SCV000328912 uncertain significance Hirschsprung disease, susceptibility to, 1 2016-11-18 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003920028 SCV004729861 likely benign NRP2-related disorder 2022-02-02 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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