ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.729G>A (p.Glu243=)

gnomAD frequency: 0.00003  dbSNP: rs144029271
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000919369 SCV001064714 likely benign Mucopolysaccharidosis type 6 2021-10-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV000919369 SCV001458077 uncertain significance Mucopolysaccharidosis type 6 2020-01-24 no assertion criteria provided clinical testing

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