ClinVar Miner

Submissions for variant NM_054012.4(ASS1):c.496-36C>T

gnomAD frequency: 0.04390  dbSNP: rs12343715
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001289649 SCV001477614 benign Citrullinemia type I 2019-10-04 criteria provided, single submitter clinical testing
GeneDx RCV001685350 SCV001899804 benign not provided 2018-08-15 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001685350 SCV005323369 benign not provided criteria provided, single submitter not provided

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