ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.570A>G (p.Thr190=)

gnomAD frequency: 0.00054  dbSNP: rs148138805
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000893567 SCV001037511 benign Mucopolysaccharidosis type 6 2021-11-15 criteria provided, single submitter clinical testing
Natera, Inc. RCV000893567 SCV001458079 likely benign Mucopolysaccharidosis type 6 2020-04-17 no assertion criteria provided clinical testing

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