ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.27G>T (p.Val9=)

gnomAD frequency: 0.00002  dbSNP: rs764924616
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000939083 SCV001084920 likely benign Aspartylglucosaminuria 2024-01-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV000939083 SCV002084898 likely benign Aspartylglucosaminuria 2020-12-21 no assertion criteria provided clinical testing

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