ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.58C>T (p.Leu20=)

dbSNP: rs758423275
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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 RCV002092898 SCV002375028 likely benign Aspartylglucosaminuria 2024-01-03 criteria provided, single submitter clinical testing

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