ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1284+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics and Endocrinology, Guangzhou Women and Children’s Medical Center RCV003984883 SCV004041881 likely pathogenic Mucolipidosis type II 2023-06-01 no assertion criteria provided clinical testing

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