ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.978+30C>T

dbSNP: rs160647
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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 RCV001554120 SCV001775294 benign Argininosuccinate lyase deficiency 2021-07-14 criteria provided, single submitter clinical testing
GeneDx RCV001597312 SCV001831112 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001597312 SCV005270143 benign not provided criteria provided, single submitter not provided

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