ClinVar Miner

Submissions for variant NM_000199.5(SGSH):c.1337A>G (p.His446Arg)

gnomAD frequency: 0.00172  dbSNP: rs148876719
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000299474 SCV000336770 likely benign not specified 2015-11-22 criteria provided, single submitter clinical testing
Invitae RCV000969381 SCV001116897 likely benign Mucopolysaccharidosis, MPS-III-A 2024-01-29 criteria provided, single submitter clinical testing

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