ClinVar Miner

Submissions for variant NM_000262.3(NAGA):c.787T>A (p.Leu263Ile)

gnomAD frequency: 0.00074  dbSNP: rs140238609
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000899748 SCV001044033 likely benign Alpha-N-acetylgalactosaminidase deficiency type 1 2024-01-18 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704291 SCV005206550 likely benign not provided criteria provided, single submitter not provided

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