ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.128-14G>A

gnomAD frequency: 0.00001  dbSNP: rs769452319
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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 RCV002153426 SCV002452493 likely benign Aspartylglucosaminuria 2023-10-29 criteria provided, single submitter clinical testing

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