ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.1554C>T (p.Thr518=)

gnomAD frequency: 0.00002  dbSNP: rs745680669
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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 RCV001418950 SCV001621193 likely benign Mucolipidosis type IV 2023-11-18 criteria provided, single submitter clinical testing

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