ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.571+2T>C

dbSNP: rs1555741822
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669577 SCV000794344 likely pathogenic Mucolipidosis type IV 2017-09-24 criteria provided, single submitter clinical testing
Suma Genomics RCV000669577 SCV002543813 pathogenic Mucolipidosis type IV criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005027804 SCV005648814 likely pathogenic Mucolipidosis type IV; Lisch epithelial corneal dystrophy 2024-03-13 criteria provided, single submitter clinical testing

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