ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.1132_1140del (p.Ala378_Phe380del) (rs397515376)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000009439 SCV000087152 pathologic Holoprosencephaly 3 2013-08-29 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000009439 SCV000029657 pathogenic Holoprosencephaly 3 1999-12-01 no assertion criteria provided literature only

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