ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.885C>T (p.Ser295=) (rs549625672)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000859587 SCV000639509 likely benign not provided 2018-08-08 criteria provided, single submitter clinical testing
GeneReviews RCV000056158 SCV000087242 non-pathogenic Holoprosencephaly 3 2013-08-29 no assertion criteria provided curation Converted during submission to Benign.

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