ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.53C>T (p.Ser18Leu) (rs121908643)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000006703 SCV000800552 uncertain significance Citrullinemia type I 2017-06-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV000006703 SCV001163216 likely pathogenic Citrullinemia type I criteria provided, single submitter clinical testing
OMIM RCV000006703 SCV000026894 pathogenic Citrullinemia type I 1991-02-01 no assertion criteria provided literature only

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