ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.707G>A (p.Arg236Gln)

gnomAD frequency: 0.00003  dbSNP: rs528887619
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000901293 SCV001045658 likely benign Mucolipidosis type IV 2024-03-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704296 SCV005210662 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV000901293 SCV001461389 benign Mucolipidosis type IV 2020-05-04 no assertion criteria provided clinical testing

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