ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.752G>C (p.Gly251Ala)

gnomAD frequency: 0.00148  dbSNP: rs144461610
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000905656 SCV001050248 benign Mucopolysaccharidosis, MPS-III-A 2024-12-24 criteria provided, single submitter clinical testing
Baylor Genetics RCV000905656 SCV004201149 uncertain significance Mucopolysaccharidosis, MPS-III-A 2021-11-23 criteria provided, single submitter clinical testing

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