ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.10A>C (p.Lys4Gln)

gnomAD frequency: 0.00131  dbSNP: rs149092606
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000938792 SCV001084615 benign Aspartylglucosaminuria 2024-01-31 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716634 SCV005304501 benign not provided criteria provided, single submitter not provided
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251881 SCV001427627 likely benign Intellectual disability 2019-01-01 no assertion criteria provided clinical testing
Natera, Inc. RCV000938792 SCV002084901 likely benign Aspartylglucosaminuria 2019-11-11 no assertion criteria provided clinical testing

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