ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.1053C>T (p.Val351=)

dbSNP: rs566285864
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000315601 SCV000342295 uncertain significance not provided 2016-05-19 criteria provided, single submitter clinical testing
Invitae RCV001087170 SCV001091031 likely benign Mucolipidosis type IV 2024-01-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001087170 SCV002091396 likely benign Mucolipidosis type IV 2019-01-29 no assertion criteria provided clinical testing

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