ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.406-7C>T

gnomAD frequency: 0.00001  dbSNP: rs547369700
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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 RCV001466370 SCV001670372 likely benign Mucolipidosis type IV 2024-03-03 criteria provided, single submitter clinical testing

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