ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.993T>G (p.Tyr331Ter)

dbSNP: rs1201784742
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667648 SCV000792133 likely pathogenic Aspartylglucosaminuria 2017-06-21 criteria provided, single submitter clinical testing

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