ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.300-32C>T

gnomAD frequency: 0.23197  dbSNP: rs35711978
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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 RCV000248560 SCV000304650 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543963 SCV001762875 benign Sandhoff disease 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001651131 SCV001864092 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001651131 SCV005302152 benign not provided criteria provided, single submitter not provided

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