ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1138C>T (p.Gln380Ter)

gnomAD frequency: 0.00001  dbSNP: rs1424242431
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664660 SCV000788660 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2018-05-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000664660 SCV002781610 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2022-03-18 criteria provided, single submitter clinical testing
Baylor Genetics RCV000664660 SCV004201145 likely pathogenic Mucopolysaccharidosis, MPS-III-A 2022-05-19 criteria provided, single submitter clinical testing

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