ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.204G>A (p.Gln68=)

gnomAD frequency: 0.00001  dbSNP: rs373209495
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001481566 SCV001685913 likely benign Aspartylglucosaminuria 2022-10-15 criteria provided, single submitter clinical testing

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