ClinVar Miner

Submissions for variant NM_006320.6(PGRMC2):c.113G>A (p.Gly38Glu)

gnomAD frequency: 0.00046  dbSNP: rs41298555
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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 RCV000508664 SCV000328913 uncertain significance Hirschsprung disease, susceptibility to, 1 2016-11-18 no assertion criteria provided clinical testing

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