ClinVar Miner

Submissions for variant NM_024312.5(GNPTAB):c.1612+28T>C

gnomAD frequency: 0.02246  dbSNP: rs74389509
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000595201 SCV000700300 benign not specified 2017-02-03 criteria provided, single submitter clinical testing
GeneDx RCV000675290 SCV001788053 likely benign not provided 2018-07-15 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675290 SCV000800952 benign not provided 2015-10-26 no assertion criteria provided clinical testing

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