ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.32-10A>G

gnomAD frequency: 0.00093  dbSNP: rs371191277
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084440 SCV001031178 benign Mucolipidosis type IV 2024-01-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675735 SCV000801452 likely benign not provided 2017-05-17 no assertion criteria provided clinical testing
Natera, Inc. RCV001084440 SCV001460349 likely benign Mucolipidosis type IV 2020-06-18 no assertion criteria provided clinical testing

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