ClinVar Miner

Submissions for variant NM_000048.4(ASL):c.916C>T (p.Arg306Trp)

dbSNP: rs868834862
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668950 SCV000793633 uncertain significance Argininosuccinate lyase deficiency 2017-08-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000668950 SCV002794356 uncertain significance Argininosuccinate lyase deficiency 2021-08-20 criteria provided, single submitter clinical testing

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