ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.597+81A>G

gnomAD frequency: 0.91777  dbSNP: rs641510
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988263 SCV001137918 benign Citrullinemia type I 2019-05-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000988263 SCV001748482 benign Citrullinemia type I 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001615094 SCV001838717 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001615094 SCV005323425 benign not provided criteria provided, single submitter not provided

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