ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.558+45G>A

gnomAD frequency: 0.89050  dbSNP: rs1665894
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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 RCV000249577 SCV000304656 benign not specified criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001543965 SCV001762878 benign Sandhoff disease 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001682982 SCV001897618 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001682982 SCV005302160 benign not provided criteria provided, single submitter not provided

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