ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1074-43C>G

gnomAD frequency: 0.06040  dbSNP: rs16956759
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248267 SCV000304636 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000248267 SCV000700303 benign not specified 2017-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001658181 SCV001874419 benign not provided 2019-01-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001658181 SCV005295363 benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001833268 SCV002085682 benign Tay-Sachs disease 2018-04-12 no assertion criteria provided clinical testing

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