ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.630C>T (p.Gly210=) (rs9333634)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177011 SCV000228815 benign not specified 2014-07-04 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000177011 SCV000605106 benign not specified 2016-09-12 criteria provided, single submitter clinical testing
Invitae RCV000859309 SCV000639506 benign not provided 2019-01-07 criteria provided, single submitter clinical testing
GeneReviews RCV000056129 SCV000087207 non-pathogenic Holoprosencephaly 3 2013-08-29 no assertion criteria provided curation Converted during submission to Benign.

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