ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.806-48G>T

gnomAD frequency: 0.06050  dbSNP: rs73440586
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000252132 SCV000304645 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000252132 SCV000700302 benign not specified 2017-02-03 criteria provided, single submitter clinical testing
GeneDx RCV001610579 SCV001838449 benign not provided 2019-01-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833269 SCV002086280 benign Tay-Sachs disease 2018-04-12 no assertion criteria provided clinical testing

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