ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.773+49C>T (rs763389916)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000256264 SCV000791132 likely pathogenic Citrullinemia type I 2017-05-02 criteria provided, single submitter clinical testing
GeneReviews RCV000256264 SCV000323090 pathogenic Citrullinemia type I 2016-09-01 no assertion criteria provided literature only

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