ClinVar Miner

Submissions for variant NM_000434.4(NEU1):c.887A>G (p.Tyr296Cys)

dbSNP: rs2151544199
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001806380 SCV002053935 likely pathogenic Sialidosis type 2 criteria provided, single submitter research

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