ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.791G>A (p.Ser264Asn)

dbSNP: rs2143001182
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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 RCV002227893 SCV002507163 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2022-05-09 criteria provided, single submitter clinical testing

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