ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.1680C>T (p.Ala560=)

gnomAD frequency: 0.00006  dbSNP: rs747365638
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000902374 SCV001046793 likely benign Mucolipidosis type IV 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413718 SCV004146459 likely benign not provided 2023-08-01 criteria provided, single submitter clinical testing MCOLN1: BP4, BP7
Natera, Inc. RCV000902374 SCV001456132 likely benign Mucolipidosis type IV 2020-09-16 no assertion criteria provided clinical testing

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