ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.281+9A>G

dbSNP: rs2111021413
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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 RCV002078380 SCV002375098 likely benign Aspartylglucosaminuria 2021-08-06 criteria provided, single submitter clinical testing

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