ClinVar Miner

Submissions for variant NM_003221.4(TFAP2B):c.601+5G>A (rs80338911)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000020531 SCV000040992 pathologic Char syndrome 2013-01-02 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000020531 SCV000292384 pathogenic Char syndrome 2005-02-22 no assertion criteria provided literature only
OMIM RCV000235013 SCV000292385 pathogenic Patent ductus arteriosus 2 2005-02-22 no assertion criteria provided literature only

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