ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.482G>A (p.Arg161Gln)

gnomAD frequency: 0.00056  dbSNP: rs192195150
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000998324 SCV001154324 likely benign not provided 2019-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001512519 SCV001719950 benign Aspartylglucosaminuria 2024-01-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV001512519 SCV002084887 likely benign Aspartylglucosaminuria 2020-10-16 no assertion criteria provided clinical testing

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