ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.537C>T (p.Cys179=)

dbSNP: rs748171793
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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 RCV001447555 SCV001650624 likely benign Aspartylglucosaminuria 2024-01-25 criteria provided, single submitter clinical testing

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