ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.771T>G (p.Thr257=)

dbSNP: rs1736734050
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002192455 SCV002346775 likely benign Aspartylglucosaminuria 2021-12-27 criteria provided, single submitter clinical testing

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