ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.877+26A>G

gnomAD frequency: 0.27574  dbSNP: rs2305889
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001527280 SCV001738239 benign Mucolipidosis type IV 2021-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000675738 SCV001907393 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675738 SCV005313077 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675738 SCV000801455 benign not provided 2015-10-23 no assertion criteria provided clinical testing

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