ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.3336-25T>C

gnomAD frequency: 0.30966  dbSNP: rs3736476
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252514 SCV000314280 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533416 SCV001749307 benign Mucolipidosis type II 2021-07-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001533417 SCV001749308 benign Pseudo-Hurler polydystrophy 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV000675285 SCV001860041 benign not provided 2018-06-28 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675285 SCV005235009 benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675285 SCV000800945 benign not provided 2015-10-23 no assertion criteria provided clinical testing

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