ClinVar Miner

Submissions for variant NM_000046.5(ARSB):c.312+8G>C

gnomAD frequency: 0.00009  dbSNP: rs774555967
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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 RCV000916379 SCV001061616 likely benign Mucopolysaccharidosis type 6 2024-12-02 criteria provided, single submitter clinical testing

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