ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.566+88C>T

gnomAD frequency: 0.59097  dbSNP: rs493389
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001553860 SCV001774937 benign Citrullinemia type I 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001658283 SCV001881853 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001658283 SCV005323391 benign not provided criteria provided, single submitter not provided

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