ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.-62GGC[7]

dbSNP: rs76300806
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245561 SCV000314273 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000364177 SCV000375467 benign Mucolipidosis, Type III Alpha/Beta 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000267238 SCV000375468 benign Mucolipidosis type II 2016-06-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000267238 SCV001933876 benign Mucolipidosis type II 2021-08-10 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001701977 SCV001933877 benign Pseudo-Hurler polydystrophy 2021-08-10 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001701825 SCV001932723 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000245561 SCV001968811 benign not specified no assertion criteria provided clinical testing

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