ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.210C>T (p.Asp70=)

gnomAD frequency: 0.00002  dbSNP: rs762870187
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 RCV001484804 SCV001689227 likely benign Aspartylglucosaminuria 2023-11-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001484804 SCV002084891 likely benign Aspartylglucosaminuria 2020-02-06 no assertion criteria provided clinical testing

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