ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.426C>T (p.Ile142=)

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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 RCV003598856 SCV004557128 likely benign Aspartylglucosaminuria 2023-05-23 criteria provided, single submitter clinical testing

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