ClinVar Miner

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

dbSNP: rs1555741822
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Total submissions: 2
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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

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