ClinVar Miner

Submissions for variant NM_000026.4(ADSL):c.725C>T (p.Thr242Ile)

dbSNP: rs1601586359
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990446 SCV001141435 pathogenic Adenylosuccinate lyase deficiency 2019-05-28 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000990446 SCV003832057 likely pathogenic Adenylosuccinate lyase deficiency 2022-09-20 criteria provided, single submitter clinical testing

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