ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.522C>T (p.Tyr174=)

gnomAD frequency: 0.00647  dbSNP: rs147064455
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000969382 SCV001116898 benign Mucopolysaccharidosis, MPS-III-A 2025-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001578102 SCV001805632 likely benign not provided 2019-02-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000969382 SCV002045526 benign Mucopolysaccharidosis, MPS-III-A 2021-11-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV000969382 SCV001459577 benign Mucopolysaccharidosis, MPS-III-A 2019-11-11 no assertion criteria provided clinical testing

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