ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.531G>A (p.Pro177=)

gnomAD frequency: 0.00004  dbSNP: rs201211905
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ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000966286 SCV001113585 likely benign Mucolipidosis type IV 2024-01-22 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003413759 SCV004146456 likely benign not provided 2022-11-01 criteria provided, single submitter clinical testing MCOLN1: BP4, BP7
Natera, Inc. RCV000966286 SCV002091372 likely benign Mucolipidosis type IV 2020-12-01 no assertion criteria provided clinical testing

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