ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.931C>T (p.Gln311Ter) (rs1301613270)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668096 SCV000792644 likely pathogenic Citrullinemia type I 2017-07-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV000668096 SCV001163597 pathogenic Citrullinemia type I criteria provided, single submitter clinical testing

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