ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.312+14C>A

dbSNP: rs1293997321
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002108374 SCV002439512 likely benign Mucopolysaccharidosis type 6 2022-02-08 criteria provided, single submitter clinical testing

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