ClinVar Miner

Submissions for variant NM_001010848.4(NRG3):c.1986C>T (p.Ser662=)

gnomAD frequency: 0.36600  dbSNP: rs2295933
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics, Erasmus University Medical Center RCV000984713 SCV000994830 uncertain significance Aganglionic megacolon 2019-05-16 no assertion criteria provided clinical testing

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