ClinVar Miner

Submissions for variant NM_020975.6(RET):c.73+9277T>C (rs2435357)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000611595 SCV000729738 benign not specified 2017-12-06 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000627056 SCV000747764 risk factor Hirschsprung disease 2017-11-20 criteria provided, single submitter clinical testing This variant was identified in a patient with Hirschsprung disease and a positive familial history. The patient harbours also a variant in the SEMA3D gene, which is a VUS for this disease.
Invitae RCV000860558 SCV001000643 benign not provided 2016-03-30 criteria provided, single submitter clinical testing
OMIM RCV000014980 SCV000035236 risk factor Hirschsprung disease 1 2010-07-09 no assertion criteria provided literature only

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