ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.48C>T (p.Leu16=)

dbSNP: rs749548544
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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 RCV001422620 SCV001625176 likely benign Aspartylglucosaminuria 2024-01-16 criteria provided, single submitter clinical testing

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