ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.235-9T>G

dbSNP: rs913764481
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661918 SCV000784240 uncertain significance Mucopolysaccharidosis, MPS-III-C 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000661919 SCV000784241 uncertain significance Retinitis pigmentosa 73 2018-03-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001470454 SCV001674549 likely benign Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2023-11-13 criteria provided, single submitter clinical testing

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