ClinVar Miner

Submissions for variant NM_000262.3(NAGA):c.502+8A>T

gnomAD frequency: 0.00006  dbSNP: rs375946807
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001459999 SCV001663859 likely benign Alpha-N-acetylgalactosaminidase deficiency type 1 2018-01-04 criteria provided, single submitter clinical testing

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