ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.1074C>T (p.Leu358=)

gnomAD frequency: 0.00002  dbSNP: rs535003448
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 RCV000896977 SCV001041092 likely benign Mucolipidosis type IV 2023-12-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV000896977 SCV001461396 uncertain significance Mucolipidosis type IV 2018-06-25 no assertion criteria provided clinical testing

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