ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.45G>T (p.Leu15=)

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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 RCV003599055 SCV004410626 likely benign Aspartylglucosaminuria 2024-01-15 criteria provided, single submitter clinical testing

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