ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.18C>T (p.Asn6=)

dbSNP: rs1579047707
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 RCV000928906 SCV001074528 likely benign Aspartylglucosaminuria 2024-01-23 criteria provided, single submitter clinical testing
Natera, Inc. RCV000928906 SCV002084900 likely benign Aspartylglucosaminuria 2021-03-10 no assertion criteria provided clinical testing

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