ClinVar Miner

Submissions for variant NM_000262.3(NAGA):c.1146T>C (p.Asp382=) (rs6002590)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000890605 SCV001034361 likely benign not provided 2018-08-18 criteria provided, single submitter clinical testing
Invitae RCV001502304 SCV001707133 likely benign Alpha-N-acetylgalactosaminidase deficiency type 1 2020-07-08 criteria provided, single submitter clinical testing

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