ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.570G>A (p.Ser190=) (rs9333633)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000713268 SCV000843857 benign not provided 2018-03-19 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177005 SCV000228809 likely benign not specified 2014-09-17 criteria provided, single submitter clinical testing
GeneReviews RCV000056122 SCV000087200 non-pathogenic Holoprosencephaly 3 2013-08-29 no assertion criteria provided curation Converted during submission to Benign.
PreventionGenetics RCV000177005 SCV000302918 benign not specified criteria provided, single submitter clinical testing

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