ClinVar Miner

Submissions for variant NM_000050.4(ASS1):c.40G>A (p.Gly14Ser) (rs121908636)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000006696 SCV000845427 likely pathogenic Citrullinemia type I 2018-08-07 criteria provided, single submitter clinical testing
OMIM RCV000006696 SCV000026887 pathogenic Citrullinemia type I 2013-04-04 no assertion criteria provided literature only

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