ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.*8T>C

gnomAD frequency: 0.00001  dbSNP: rs751699944
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Natera, Inc. RCV001279360 SCV001466449 likely benign Mucolipidosis type IV 2020-07-03 no assertion criteria provided clinical testing

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