ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.625C>T (p.Leu209Phe)

gnomAD frequency: 0.00001  dbSNP: rs576022241
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001468116 SCV001672154 likely benign Mucolipidosis type IV 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001468116 SCV002091375 likely benign Mucolipidosis type IV 2018-09-10 no assertion criteria provided clinical testing

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