ClinVar Miner

Submissions for variant NM_000027.4(AGA):c.160C>T (p.Leu54=)

gnomAD frequency: 0.00001  dbSNP: rs992715539
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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 RCV001411054 SCV001613111 likely benign Aspartylglucosaminuria 2023-11-27 criteria provided, single submitter clinical testing

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