ClinVar Miner

Submissions for variant NM_020975.6(RET):c.95C>T (p.Ser32Leu) (rs76764689)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000014948 SCV000035204 risk factor Hirschsprung disease 1 1994-01-27 no assertion criteria provided literature only
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678742 SCV000804914 likely pathogenic Hirschsprung disease 2014-07-29 no assertion criteria provided clinical testing

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