ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.394+19_394+20del

gnomAD frequency: 0.00349  dbSNP: rs575232762
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670040 SCV000794851 likely benign Aspartylglucosaminuria 2017-10-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000670040 SCV001718227 benign Aspartylglucosaminuria 2025-01-29 criteria provided, single submitter clinical testing

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