ClinVar Miner

Submissions for variant NM_001366661.1(CLUH):c.3664G>C (p.Asp1222His)

gnomAD frequency: 0.00031  dbSNP: rs201361018
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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 RCV000508604 SCV000328921 uncertain significance Hirschsprung disease, susceptibility to, 1 2016-11-18 no assertion criteria provided clinical testing

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