ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.1200C>T (p.Gly400=)

gnomAD frequency: 0.01398  dbSNP: rs28541364
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080744 SCV000630740 benign Mucolipidosis type IV 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000675742 SCV001777267 likely benign not provided 2020-09-22 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675742 SCV000801459 likely benign not provided 2017-03-16 no assertion criteria provided clinical testing
Natera, Inc. RCV001080744 SCV001461399 likely benign Mucolipidosis type IV 2020-01-10 no assertion criteria provided clinical testing

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