ClinVar Miner

Submissions for variant NM_001397.3(ECE1):c.1879C>T (p.Arg627Trp)

gnomAD frequency: 0.00022  dbSNP: rs200894751
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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
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) RCV000736044 SCV000845744 likely pathogenic Aganglionic megacolon no assertion criteria provided research

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